Name: rs57397996
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs57397996

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:99720835-99720883 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(CA)₁₅ / del(CA)₁₄ / del(CA)₁₃ …
del(CA)₁₅ / del(CA)₁₄ / del(CA)₁₃ / del(CA)₁₂ / del(CA)₁₁ / del(CA)₁₀ / del(CA)₉ / del(CA)₈ / del(CA)₇ / del(CA)₆ / del(CA)₅ / del(CA)₄ / del(CA)₃ / delCACA / delCA / dupCA / dupCACA / dup(CA)₃ / dup(CA)₄ / dup(CA)₅ / dup(CA)₆ / dup(CA)₇ / dup(CA)₁₀ / dup(CA)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: dup(CA)₇=0.000015 (4/264690, TOPMED)
del(CA)₃=0.3960 (1983/5008, 1000G)
delCA=0.2293 (1085/4732, ALFA) (+ 2 more)
del(CA)₅=0.2224 (857/3854, ALSPAC)
(AC)₂₄A=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FRRS1 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	4732	ACACACACACACACACACACACACACACACACACACACACACACACACA=0.3166	ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACA=0.0080, ACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACA=0.1847, ACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACA=0.0560, ACACACACACACACACACACACACACACACACACACACACACACA=0.1240, ACACACACACACACACACACACACACACACACACACACACACACACA=0.2293, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0814, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.449612	0.226098	0.324289	32
European	Sub	4672	ACACACACACACACACACACACACACACACACACACACACACACACACA=0.3091	ACACACACACACACACACA=0.0000, ACACACACACACACACACACA=0.0000, ACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACA=0.0081, ACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACA=0.1862, ACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACA=0.0567, ACACACACACACACACACACACACACACACACACACACACACACA=0.1254, ACACACACACACACACACACACACACACACACACACACACACACACA=0.2322, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0822, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.430481	0.233957	0.335561	36
African	Sub	8	ACACACACACACACACACACACACACACACACACACACACACACACACA=1.0	ACACACACACACACACACA=0.0, ACACACACACACACACACACA=0.0, ACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	1.0	0.0	0.0	N/A
African Others	Sub	0	ACACACACACACACACACACACACACACACACACACACACACACACACA=0	ACACACACACACACACACA=0, ACACACACACACACACACACA=0, ACACACACACACACACACACACA=0, ACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0	0	0	0	N/A
African American	Sub	8	ACACACACACACACACACACACACACACACACACACACACACACACACA=1.0	ACACACACACACACACACA=0.0, ACACACACACACACACACACA=0.0, ACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	1.0	0.0	0.0	N/A
Asian	Sub	12	ACACACACACACACACACACACACACACACACACACACACACACACACA=1.00	ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	12	ACACACACACACACACACACACACACACACACACACACACACACACACA=1.00	ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	0	ACACACACACACACACACACACACACACACACACACACACACACACACA=0	ACACACACACACACACACA=0, ACACACACACACACACACACA=0, ACACACACACACACACACACACA=0, ACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0	0	0	0	N/A
Latin American 1	Sub	2	ACACACACACACACACACACACACACACACACACACACACACACACACA=1.0	ACACACACACACACACACA=0.0, ACACACACACACACACACACA=0.0, ACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	12	ACACACACACACACACACACACACACACACACACACACACACACACACA=1.00	ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	2	ACACACACACACACACACACACACACACACACACACACACACACACACA=1.0	ACACACACACACACACACA=0.0, ACACACACACACACACACACA=0.0, ACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	1.0	0.0	0.0	N/A
Other	Sub	24	ACACACACACACACACACACACACACACACACACACACACACACACACA=0.75	ACACACACACACACACACA=0.00, ACACACACACACACACACACA=0.00, ACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACA=0.17, ACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACA=0.04, ACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACA=0.04, ACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	- No frequency provided	dup(CA)₇=0.000015
1000Genomes	Global	Study-wide	5008	(AC)₂₄A=0.6040	del(CA)₃=0.3960
1000Genomes	African	Sub	1322	(AC)₂₄A=0.2496	del(CA)₃=0.7504
1000Genomes	East Asian	Sub	1008	(AC)₂₄A=0.7550	del(CA)₃=0.2450
1000Genomes	Europe	Sub	1006	(AC)₂₄A=0.7863	del(CA)₃=0.2137
1000Genomes	South Asian	Sub	978	(AC)₂₄A=0.644	del(CA)₃=0.356
1000Genomes	American	Sub	694	(AC)₂₄A=0.739	del(CA)₃=0.261
Allele Frequency Aggregator	Total	Global	4732	(AC)₂₄A=0.3166	del(CA)₁₅=0.0000, del(CA)₁₄=0.0000, del(CA)₁₃=0.0000, del(CA)₁₂=0.0000, del(CA)₁₁=0.0000, del(CA)₁₀=0.0000, del(CA)₉=0.0000, del(CA)₈=0.0000, del(CA)₇=0.0080, del(CA)₆=0.0000, del(CA)₅=0.1847, del(CA)₄=0.0000, del(CA)₃=0.0560, delCACA=0.1240, delCA=0.2293, dupCA=0.0814, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000, dup(CA)₆=0.0000, dup(CA)₇=0.0000
Allele Frequency Aggregator	European	Sub	4672	(AC)₂₄A=0.3091	del(CA)₁₅=0.0000, del(CA)₁₄=0.0000, del(CA)₁₃=0.0000, del(CA)₁₂=0.0000, del(CA)₁₁=0.0000, del(CA)₁₀=0.0000, del(CA)₉=0.0000, del(CA)₈=0.0000, del(CA)₇=0.0081, del(CA)₆=0.0000, del(CA)₅=0.1862, del(CA)₄=0.0000, del(CA)₃=0.0567, delCACA=0.1254, delCA=0.2322, dupCA=0.0822, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000, dup(CA)₆=0.0000, dup(CA)₇=0.0000
Allele Frequency Aggregator	Other	Sub	24	(AC)₂₄A=0.75	del(CA)₁₅=0.00, del(CA)₁₄=0.00, del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.17, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.04, delCA=0.00, dupCA=0.04, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00, dup(CA)₆=0.00, dup(CA)₇=0.00
Allele Frequency Aggregator	Latin American 2	Sub	12	(AC)₂₄A=1.00	del(CA)₁₅=0.00, del(CA)₁₄=0.00, del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00, dup(CA)₆=0.00, dup(CA)₇=0.00
Allele Frequency Aggregator	Asian	Sub	12	(AC)₂₄A=1.00	del(CA)₁₅=0.00, del(CA)₁₄=0.00, del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00, dup(CA)₆=0.00, dup(CA)₇=0.00
Allele Frequency Aggregator	African	Sub	8	(AC)₂₄A=1.0	del(CA)₁₅=0.0, del(CA)₁₄=0.0, del(CA)₁₃=0.0, del(CA)₁₂=0.0, del(CA)₁₁=0.0, del(CA)₁₀=0.0, del(CA)₉=0.0, del(CA)₈=0.0, del(CA)₇=0.0, del(CA)₆=0.0, del(CA)₅=0.0, del(CA)₄=0.0, del(CA)₃=0.0, delCACA=0.0, delCA=0.0, dupCA=0.0, dupCACA=0.0, dup(CA)₃=0.0, dup(CA)₄=0.0, dup(CA)₅=0.0, dup(CA)₆=0.0, dup(CA)₇=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(AC)₂₄A=1.0	del(CA)₁₅=0.0, del(CA)₁₄=0.0, del(CA)₁₃=0.0, del(CA)₁₂=0.0, del(CA)₁₁=0.0, del(CA)₁₀=0.0, del(CA)₉=0.0, del(CA)₈=0.0, del(CA)₇=0.0, del(CA)₆=0.0, del(CA)₅=0.0, del(CA)₄=0.0, del(CA)₃=0.0, delCACA=0.0, delCA=0.0, dupCA=0.0, dupCACA=0.0, dup(CA)₃=0.0, dup(CA)₄=0.0, dup(CA)₅=0.0, dup(CA)₆=0.0, dup(CA)₇=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(AC)₂₄A=1.0	del(CA)₁₅=0.0, del(CA)₁₄=0.0, del(CA)₁₃=0.0, del(CA)₁₂=0.0, del(CA)₁₁=0.0, del(CA)₁₀=0.0, del(CA)₉=0.0, del(CA)₈=0.0, del(CA)₇=0.0, del(CA)₆=0.0, del(CA)₅=0.0, del(CA)₄=0.0, del(CA)₃=0.0, delCACA=0.0, delCA=0.0, dupCA=0.0, dupCACA=0.0, dup(CA)₃=0.0, dup(CA)₄=0.0, dup(CA)₅=0.0, dup(CA)₆=0.0, dup(CA)₇=0.0
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(AC)₂₄A=0.7776	del(CA)₅=0.2224
The Danish reference pan genome	Danish	Study-wide	40	(AC)₂₄A=0.33	del(CA)₃=0.68

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[9]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[10]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[11]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[12]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[13]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[14]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[15]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[16]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[17]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[18]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[19]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[20]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[21]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[22]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[23]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[25]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[26]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[27]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[28]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[29]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[30]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[31]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[34]
GRCh38.p14 chr 1	NC_000001.11:g.99720836CA[36]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[9]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[10]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[11]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[12]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[13]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[14]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[15]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[16]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[17]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[18]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[19]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[20]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[21]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[22]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[23]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[25]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[26]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[27]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[28]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[29]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[30]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[31]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[34]
GRCh37.p13 chr 1	NC_000001.10:g.100186392CA[36]

Gene: FRRS1, ferric chelate reductase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FRRS1 transcript variant 1	NM_001013660.4:c.1007-123… NM_001013660.4:c.1007-1235GT[9]	N/A	Intron Variant
FRRS1 transcript variant 2	NM_001361041.2:c.1007-123… NM_001361041.2:c.1007-1235GT[9]	N/A	Intron Variant
FRRS1 transcript variant X1	XM_011541451.4:c.1007-123… XM_011541451.4:c.1007-1235GT[9]	N/A	Intron Variant
FRRS1 transcript variant X5	XM_011541452.2:c.1007-123… XM_011541452.2:c.1007-1235GT[9]	N/A	Intron Variant
FRRS1 transcript variant X2	XM_017001271.2:c.1007-123… XM_017001271.2:c.1007-1235GT[9]	N/A	Intron Variant
FRRS1 transcript variant X3	XM_047420239.1:c.1007-123… XM_047420239.1:c.1007-1235GT[9]	N/A	Intron Variant
FRRS1 transcript variant X6	XM_047420257.1:c.1007-123… XM_047420257.1:c.1007-1235GT[9]	N/A	Intron Variant
FRRS1 transcript variant X4	XR_946655.2:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(AC)₂₄A=	del(CA)₁₅	del(CA)₁₄	del(CA)₁₃	del(CA)₁₂	del(CA)₁₁	del(CA)₁₀	del(CA)₉	del(CA)₈	del(CA)₇	del(CA)₆	del(CA)₅	del(CA)₄	del(CA)₃	delCACA	delCA	dupCA	dupCACA	dup(CA)₃	dup(CA)₄	dup(CA)₅	dup(CA)₆	dup(CA)₇	dup(CA)₁₀	dup(CA)₁₂
GRCh38.p14 chr 1	NC_000001.11:g.99720835_99720883=	NC_000001.11:g.99720836CA[9]	NC_000001.11:g.99720836CA[10]	NC_000001.11:g.99720836CA[11]	NC_000001.11:g.99720836CA[12]	NC_000001.11:g.99720836CA[13]	NC_000001.11:g.99720836CA[14]	NC_000001.11:g.99720836CA[15]	NC_000001.11:g.99720836CA[16]	NC_000001.11:g.99720836CA[17]	NC_000001.11:g.99720836CA[18]	NC_000001.11:g.99720836CA[19]	NC_000001.11:g.99720836CA[20]	NC_000001.11:g.99720836CA[21]	NC_000001.11:g.99720836CA[22]	NC_000001.11:g.99720836CA[23]	NC_000001.11:g.99720836CA[25]	NC_000001.11:g.99720836CA[26]	NC_000001.11:g.99720836CA[27]	NC_000001.11:g.99720836CA[28]	NC_000001.11:g.99720836CA[29]	NC_000001.11:g.99720836CA[30]	NC_000001.11:g.99720836CA[31]	NC_000001.11:g.99720836CA[34]	NC_000001.11:g.99720836CA[36]
GRCh37.p13 chr 1	NC_000001.10:g.100186391_100186439=	NC_000001.10:g.100186392CA[9]	NC_000001.10:g.100186392CA[10]	NC_000001.10:g.100186392CA[11]	NC_000001.10:g.100186392CA[12]	NC_000001.10:g.100186392CA[13]	NC_000001.10:g.100186392CA[14]	NC_000001.10:g.100186392CA[15]	NC_000001.10:g.100186392CA[16]	NC_000001.10:g.100186392CA[17]	NC_000001.10:g.100186392CA[18]	NC_000001.10:g.100186392CA[19]	NC_000001.10:g.100186392CA[20]	NC_000001.10:g.100186392CA[21]	NC_000001.10:g.100186392CA[22]	NC_000001.10:g.100186392CA[23]	NC_000001.10:g.100186392CA[25]	NC_000001.10:g.100186392CA[26]	NC_000001.10:g.100186392CA[27]	NC_000001.10:g.100186392CA[28]	NC_000001.10:g.100186392CA[29]	NC_000001.10:g.100186392CA[30]	NC_000001.10:g.100186392CA[31]	NC_000001.10:g.100186392CA[34]	NC_000001.10:g.100186392CA[36]
FRRS1 transcript	NM_001013660.2:c.1007-1188=	NM_001013660.2:c.1007-1235GT[9]	NM_001013660.2:c.1007-1235GT[10]	NM_001013660.2:c.1007-1235GT[11]	NM_001013660.2:c.1007-1235GT[12]	NM_001013660.2:c.1007-1235GT[13]	NM_001013660.2:c.1007-1235GT[14]	NM_001013660.2:c.1007-1235GT[15]	NM_001013660.2:c.1007-1235GT[16]	NM_001013660.2:c.1007-1235GT[17]	NM_001013660.2:c.1007-1235GT[18]	NM_001013660.2:c.1007-1235GT[19]	NM_001013660.2:c.1007-1235GT[20]	NM_001013660.2:c.1007-1235GT[21]	NM_001013660.2:c.1007-1235GT[22]	NM_001013660.2:c.1007-1235GT[23]	NM_001013660.2:c.1007-1235GT[25]	NM_001013660.2:c.1007-1235GT[26]	NM_001013660.2:c.1007-1235GT[27]	NM_001013660.2:c.1007-1235GT[28]	NM_001013660.2:c.1007-1235GT[29]	NM_001013660.2:c.1007-1235GT[30]	NM_001013660.2:c.1007-1235GT[31]	NM_001013660.2:c.1007-1235GT[34]	NM_001013660.2:c.1007-1235GT[36]
FRRS1 transcript variant 1	NM_001013660.4:c.1007-1188=	NM_001013660.4:c.1007-1235GT[9]	NM_001013660.4:c.1007-1235GT[10]	NM_001013660.4:c.1007-1235GT[11]	NM_001013660.4:c.1007-1235GT[12]	NM_001013660.4:c.1007-1235GT[13]	NM_001013660.4:c.1007-1235GT[14]	NM_001013660.4:c.1007-1235GT[15]	NM_001013660.4:c.1007-1235GT[16]	NM_001013660.4:c.1007-1235GT[17]	NM_001013660.4:c.1007-1235GT[18]	NM_001013660.4:c.1007-1235GT[19]	NM_001013660.4:c.1007-1235GT[20]	NM_001013660.4:c.1007-1235GT[21]	NM_001013660.4:c.1007-1235GT[22]	NM_001013660.4:c.1007-1235GT[23]	NM_001013660.4:c.1007-1235GT[25]	NM_001013660.4:c.1007-1235GT[26]	NM_001013660.4:c.1007-1235GT[27]	NM_001013660.4:c.1007-1235GT[28]	NM_001013660.4:c.1007-1235GT[29]	NM_001013660.4:c.1007-1235GT[30]	NM_001013660.4:c.1007-1235GT[31]	NM_001013660.4:c.1007-1235GT[34]	NM_001013660.4:c.1007-1235GT[36]
FRRS1 transcript variant 2	NM_001361041.2:c.1007-1188=	NM_001361041.2:c.1007-1235GT[9]	NM_001361041.2:c.1007-1235GT[10]	NM_001361041.2:c.1007-1235GT[11]	NM_001361041.2:c.1007-1235GT[12]	NM_001361041.2:c.1007-1235GT[13]	NM_001361041.2:c.1007-1235GT[14]	NM_001361041.2:c.1007-1235GT[15]	NM_001361041.2:c.1007-1235GT[16]	NM_001361041.2:c.1007-1235GT[17]	NM_001361041.2:c.1007-1235GT[18]	NM_001361041.2:c.1007-1235GT[19]	NM_001361041.2:c.1007-1235GT[20]	NM_001361041.2:c.1007-1235GT[21]	NM_001361041.2:c.1007-1235GT[22]	NM_001361041.2:c.1007-1235GT[23]	NM_001361041.2:c.1007-1235GT[25]	NM_001361041.2:c.1007-1235GT[26]	NM_001361041.2:c.1007-1235GT[27]	NM_001361041.2:c.1007-1235GT[28]	NM_001361041.2:c.1007-1235GT[29]	NM_001361041.2:c.1007-1235GT[30]	NM_001361041.2:c.1007-1235GT[31]	NM_001361041.2:c.1007-1235GT[34]	NM_001361041.2:c.1007-1235GT[36]
FRRS1 transcript variant X1	XM_005270860.1:c.1007-1188=	XM_005270860.1:c.1007-1235GT[9]	XM_005270860.1:c.1007-1235GT[10]	XM_005270860.1:c.1007-1235GT[11]	XM_005270860.1:c.1007-1235GT[12]	XM_005270860.1:c.1007-1235GT[13]	XM_005270860.1:c.1007-1235GT[14]	XM_005270860.1:c.1007-1235GT[15]	XM_005270860.1:c.1007-1235GT[16]	XM_005270860.1:c.1007-1235GT[17]	XM_005270860.1:c.1007-1235GT[18]	XM_005270860.1:c.1007-1235GT[19]	XM_005270860.1:c.1007-1235GT[20]	XM_005270860.1:c.1007-1235GT[21]	XM_005270860.1:c.1007-1235GT[22]	XM_005270860.1:c.1007-1235GT[23]	XM_005270860.1:c.1007-1235GT[25]	XM_005270860.1:c.1007-1235GT[26]	XM_005270860.1:c.1007-1235GT[27]	XM_005270860.1:c.1007-1235GT[28]	XM_005270860.1:c.1007-1235GT[29]	XM_005270860.1:c.1007-1235GT[30]	XM_005270860.1:c.1007-1235GT[31]	XM_005270860.1:c.1007-1235GT[34]	XM_005270860.1:c.1007-1235GT[36]
FRRS1 transcript variant X2	XM_005270861.1:c.1007-1188=	XM_005270861.1:c.1007-1235GT[9]	XM_005270861.1:c.1007-1235GT[10]	XM_005270861.1:c.1007-1235GT[11]	XM_005270861.1:c.1007-1235GT[12]	XM_005270861.1:c.1007-1235GT[13]	XM_005270861.1:c.1007-1235GT[14]	XM_005270861.1:c.1007-1235GT[15]	XM_005270861.1:c.1007-1235GT[16]	XM_005270861.1:c.1007-1235GT[17]	XM_005270861.1:c.1007-1235GT[18]	XM_005270861.1:c.1007-1235GT[19]	XM_005270861.1:c.1007-1235GT[20]	XM_005270861.1:c.1007-1235GT[21]	XM_005270861.1:c.1007-1235GT[22]	XM_005270861.1:c.1007-1235GT[23]	XM_005270861.1:c.1007-1235GT[25]	XM_005270861.1:c.1007-1235GT[26]	XM_005270861.1:c.1007-1235GT[27]	XM_005270861.1:c.1007-1235GT[28]	XM_005270861.1:c.1007-1235GT[29]	XM_005270861.1:c.1007-1235GT[30]	XM_005270861.1:c.1007-1235GT[31]	XM_005270861.1:c.1007-1235GT[34]	XM_005270861.1:c.1007-1235GT[36]
FRRS1 transcript variant X1	XM_011541451.4:c.1007-1188=	XM_011541451.4:c.1007-1235GT[9]	XM_011541451.4:c.1007-1235GT[10]	XM_011541451.4:c.1007-1235GT[11]	XM_011541451.4:c.1007-1235GT[12]	XM_011541451.4:c.1007-1235GT[13]	XM_011541451.4:c.1007-1235GT[14]	XM_011541451.4:c.1007-1235GT[15]	XM_011541451.4:c.1007-1235GT[16]	XM_011541451.4:c.1007-1235GT[17]	XM_011541451.4:c.1007-1235GT[18]	XM_011541451.4:c.1007-1235GT[19]	XM_011541451.4:c.1007-1235GT[20]	XM_011541451.4:c.1007-1235GT[21]	XM_011541451.4:c.1007-1235GT[22]	XM_011541451.4:c.1007-1235GT[23]	XM_011541451.4:c.1007-1235GT[25]	XM_011541451.4:c.1007-1235GT[26]	XM_011541451.4:c.1007-1235GT[27]	XM_011541451.4:c.1007-1235GT[28]	XM_011541451.4:c.1007-1235GT[29]	XM_011541451.4:c.1007-1235GT[30]	XM_011541451.4:c.1007-1235GT[31]	XM_011541451.4:c.1007-1235GT[34]	XM_011541451.4:c.1007-1235GT[36]
FRRS1 transcript variant X5	XM_011541452.2:c.1007-1188=	XM_011541452.2:c.1007-1235GT[9]	XM_011541452.2:c.1007-1235GT[10]	XM_011541452.2:c.1007-1235GT[11]	XM_011541452.2:c.1007-1235GT[12]	XM_011541452.2:c.1007-1235GT[13]	XM_011541452.2:c.1007-1235GT[14]	XM_011541452.2:c.1007-1235GT[15]	XM_011541452.2:c.1007-1235GT[16]	XM_011541452.2:c.1007-1235GT[17]	XM_011541452.2:c.1007-1235GT[18]	XM_011541452.2:c.1007-1235GT[19]	XM_011541452.2:c.1007-1235GT[20]	XM_011541452.2:c.1007-1235GT[21]	XM_011541452.2:c.1007-1235GT[22]	XM_011541452.2:c.1007-1235GT[23]	XM_011541452.2:c.1007-1235GT[25]	XM_011541452.2:c.1007-1235GT[26]	XM_011541452.2:c.1007-1235GT[27]	XM_011541452.2:c.1007-1235GT[28]	XM_011541452.2:c.1007-1235GT[29]	XM_011541452.2:c.1007-1235GT[30]	XM_011541452.2:c.1007-1235GT[31]	XM_011541452.2:c.1007-1235GT[34]	XM_011541452.2:c.1007-1235GT[36]
FRRS1 transcript variant X2	XM_017001271.2:c.1007-1188=	XM_017001271.2:c.1007-1235GT[9]	XM_017001271.2:c.1007-1235GT[10]	XM_017001271.2:c.1007-1235GT[11]	XM_017001271.2:c.1007-1235GT[12]	XM_017001271.2:c.1007-1235GT[13]	XM_017001271.2:c.1007-1235GT[14]	XM_017001271.2:c.1007-1235GT[15]	XM_017001271.2:c.1007-1235GT[16]	XM_017001271.2:c.1007-1235GT[17]	XM_017001271.2:c.1007-1235GT[18]	XM_017001271.2:c.1007-1235GT[19]	XM_017001271.2:c.1007-1235GT[20]	XM_017001271.2:c.1007-1235GT[21]	XM_017001271.2:c.1007-1235GT[22]	XM_017001271.2:c.1007-1235GT[23]	XM_017001271.2:c.1007-1235GT[25]	XM_017001271.2:c.1007-1235GT[26]	XM_017001271.2:c.1007-1235GT[27]	XM_017001271.2:c.1007-1235GT[28]	XM_017001271.2:c.1007-1235GT[29]	XM_017001271.2:c.1007-1235GT[30]	XM_017001271.2:c.1007-1235GT[31]	XM_017001271.2:c.1007-1235GT[34]	XM_017001271.2:c.1007-1235GT[36]
FRRS1 transcript variant X3	XM_047420239.1:c.1007-1188=	XM_047420239.1:c.1007-1235GT[9]	XM_047420239.1:c.1007-1235GT[10]	XM_047420239.1:c.1007-1235GT[11]	XM_047420239.1:c.1007-1235GT[12]	XM_047420239.1:c.1007-1235GT[13]	XM_047420239.1:c.1007-1235GT[14]	XM_047420239.1:c.1007-1235GT[15]	XM_047420239.1:c.1007-1235GT[16]	XM_047420239.1:c.1007-1235GT[17]	XM_047420239.1:c.1007-1235GT[18]	XM_047420239.1:c.1007-1235GT[19]	XM_047420239.1:c.1007-1235GT[20]	XM_047420239.1:c.1007-1235GT[21]	XM_047420239.1:c.1007-1235GT[22]	XM_047420239.1:c.1007-1235GT[23]	XM_047420239.1:c.1007-1235GT[25]	XM_047420239.1:c.1007-1235GT[26]	XM_047420239.1:c.1007-1235GT[27]	XM_047420239.1:c.1007-1235GT[28]	XM_047420239.1:c.1007-1235GT[29]	XM_047420239.1:c.1007-1235GT[30]	XM_047420239.1:c.1007-1235GT[31]	XM_047420239.1:c.1007-1235GT[34]	XM_047420239.1:c.1007-1235GT[36]
FRRS1 transcript variant X6	XM_047420257.1:c.1007-1188=	XM_047420257.1:c.1007-1235GT[9]	XM_047420257.1:c.1007-1235GT[10]	XM_047420257.1:c.1007-1235GT[11]	XM_047420257.1:c.1007-1235GT[12]	XM_047420257.1:c.1007-1235GT[13]	XM_047420257.1:c.1007-1235GT[14]	XM_047420257.1:c.1007-1235GT[15]	XM_047420257.1:c.1007-1235GT[16]	XM_047420257.1:c.1007-1235GT[17]	XM_047420257.1:c.1007-1235GT[18]	XM_047420257.1:c.1007-1235GT[19]	XM_047420257.1:c.1007-1235GT[20]	XM_047420257.1:c.1007-1235GT[21]	XM_047420257.1:c.1007-1235GT[22]	XM_047420257.1:c.1007-1235GT[23]	XM_047420257.1:c.1007-1235GT[25]	XM_047420257.1:c.1007-1235GT[26]	XM_047420257.1:c.1007-1235GT[27]	XM_047420257.1:c.1007-1235GT[28]	XM_047420257.1:c.1007-1235GT[29]	XM_047420257.1:c.1007-1235GT[30]	XM_047420257.1:c.1007-1235GT[31]	XM_047420257.1:c.1007-1235GT[34]	XM_047420257.1:c.1007-1235GT[36]

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

87 SubSNP, 44 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss79913463	Dec 14, 2007 (129)
2	HGSV	ss80017240	Dec 14, 2007 (129)
3	HGSV	ss80020721	Dec 14, 2007 (129)
4	HUMANGENOME_JCVI	ss95237974	Feb 04, 2009 (130)
5	LUNTER	ss550974718	Apr 25, 2013 (138)
6	LUNTER	ss552790738	Apr 25, 2013 (138)
7	BILGI_BIOE	ss666103130	Apr 25, 2013 (138)
8	1000GENOMES	ss1367791955	Aug 21, 2014 (142)
9	EVA_GENOME_DK	ss1583561425	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1701009763	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1701009774	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1709940949	Apr 01, 2015 (144)
13	EVA_UK10K_ALSPAC	ss1709940950	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1709940951	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1709940952	Apr 01, 2015 (144)
16	SWEGEN	ss2987307098	Nov 08, 2017 (151)
17	MCHAISSO	ss3064415187	Nov 08, 2017 (151)
18	MCHAISSO	ss3065317300	Nov 08, 2017 (151)
19	URBANLAB	ss3646731629	Oct 11, 2018 (152)
20	URBANLAB	ss3646731630	Oct 11, 2018 (152)
21	EVA_DECODE	ss3687369061	Jul 12, 2019 (153)
22	EVA_DECODE	ss3687369062	Jul 12, 2019 (153)
23	EVA_DECODE	ss3687369063	Jul 12, 2019 (153)
24	EVA_DECODE	ss3687369064	Jul 12, 2019 (153)
25	EVA_DECODE	ss3687369065	Jul 12, 2019 (153)
26	EVA_DECODE	ss3687369066	Jul 12, 2019 (153)
27	PACBIO	ss3783496174	Jul 12, 2019 (153)
28	PACBIO	ss3783496175	Jul 12, 2019 (153)
29	PACBIO	ss3789141157	Jul 12, 2019 (153)
30	PACBIO	ss3789141158	Jul 12, 2019 (153)
31	PACBIO	ss3794014002	Jul 12, 2019 (153)
32	PACBIO	ss3794014003	Jul 12, 2019 (153)
33	KHV_HUMAN_GENOMES	ss3799576101	Jul 12, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3799576102	Jul 12, 2019 (153)
35	EVA	ss3826326992	Apr 25, 2020 (154)
36	EVA	ss3836553773	Apr 25, 2020 (154)
37	EVA	ss3841961767	Apr 25, 2020 (154)
38	GNOMAD	ss3999009244	Apr 25, 2021 (155)
39	GNOMAD	ss3999009245	Apr 25, 2021 (155)
40	GNOMAD	ss3999009246	Apr 25, 2021 (155)
41	GNOMAD	ss3999009247	Apr 25, 2021 (155)
42	GNOMAD	ss3999009248	Apr 25, 2021 (155)
43	GNOMAD	ss3999009249	Apr 25, 2021 (155)
44	GNOMAD	ss3999009250	Apr 25, 2021 (155)
45	GNOMAD	ss3999009251	Apr 25, 2021 (155)
46	GNOMAD	ss3999009252	Apr 25, 2021 (155)
47	GNOMAD	ss3999009254	Apr 25, 2021 (155)
48	GNOMAD	ss3999009255	Apr 25, 2021 (155)
49	GNOMAD	ss3999009256	Apr 25, 2021 (155)
50	GNOMAD	ss3999009257	Apr 25, 2021 (155)
51	GNOMAD	ss3999009258	Apr 25, 2021 (155)
52	GNOMAD	ss3999009259	Apr 25, 2021 (155)
53	GNOMAD	ss3999009260	Apr 25, 2021 (155)
54	GNOMAD	ss3999009261	Apr 25, 2021 (155)
55	GNOMAD	ss3999009262	Apr 25, 2021 (155)
56	GNOMAD	ss3999009263	Apr 25, 2021 (155)
57	GNOMAD	ss3999009264	Apr 25, 2021 (155)
58	GNOMAD	ss3999009265	Apr 25, 2021 (155)
59	GNOMAD	ss3999009266	Apr 25, 2021 (155)
60	GNOMAD	ss3999009267	Apr 25, 2021 (155)
61	GNOMAD	ss3999009268	Apr 25, 2021 (155)
62	TOPMED	ss4460730856	Apr 25, 2021 (155)
63	TOMMO_GENOMICS	ss5145317273	Apr 25, 2021 (155)
64	TOMMO_GENOMICS	ss5145317274	Apr 25, 2021 (155)
65	TOMMO_GENOMICS	ss5145317275	Apr 25, 2021 (155)
66	TOMMO_GENOMICS	ss5145317276	Apr 25, 2021 (155)
67	TOMMO_GENOMICS	ss5145317277	Apr 25, 2021 (155)
68	TOMMO_GENOMICS	ss5145317278	Apr 25, 2021 (155)
69	1000G_HIGH_COVERAGE	ss5243325008	Oct 12, 2022 (156)
70	1000G_HIGH_COVERAGE	ss5243325009	Oct 12, 2022 (156)
71	1000G_HIGH_COVERAGE	ss5243325010	Oct 12, 2022 (156)
72	HUGCELL_USP	ss5444277229	Oct 12, 2022 (156)
73	HUGCELL_USP	ss5444277230	Oct 12, 2022 (156)
74	HUGCELL_USP	ss5444277231	Oct 12, 2022 (156)
75	HUGCELL_USP	ss5444277232	Oct 12, 2022 (156)
76	HUGCELL_USP	ss5444277233	Oct 12, 2022 (156)
77	HUGCELL_USP	ss5444277234	Oct 12, 2022 (156)
78	TOMMO_GENOMICS	ss5670477901	Oct 12, 2022 (156)
79	TOMMO_GENOMICS	ss5670477902	Oct 12, 2022 (156)
80	TOMMO_GENOMICS	ss5670477903	Oct 12, 2022 (156)
81	TOMMO_GENOMICS	ss5670477904	Oct 12, 2022 (156)
82	TOMMO_GENOMICS	ss5670477905	Oct 12, 2022 (156)
83	TOMMO_GENOMICS	ss5670477906	Oct 12, 2022 (156)
84	EVA	ss5832373392	Oct 12, 2022 (156)
85	EVA	ss5832373393	Oct 12, 2022 (156)
86	EVA	ss5832373394	Oct 12, 2022 (156)
87	EVA	ss5832373395	Oct 12, 2022 (156)
88	1000Genomes	NC_000001.10 - 100186391	Oct 11, 2018 (152)
89	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 100186391	Oct 11, 2018 (152)
90	The Danish reference pan genome	NC_000001.10 - 100186395	Apr 25, 2020 (154)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
99	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
100	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
101	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
102	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
103	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
104	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
105	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
106	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
107	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
108	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
109	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
110	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
111	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
112	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
113	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
114	gnomAD - Genomes Submission ignored due to conflicting rows: Row 20323825 (NC_000001.11:99720834::AC 6345/126352) Row 20323826 (NC_000001.11:99720834::ACAC 718/126456) Row 20323827 (NC_000001.11:99720834::ACACAC 80/126470)...	-	Apr 25, 2021 (155)
115	8.3KJPN Submission ignored due to conflicting rows: Row 3286580 (NC_000001.10:100186390:AC: 2709/16748) Row 3286581 (NC_000001.10:100186390::AC 831/16748) Row 3286582 (NC_000001.10:100186390:ACACACACAC: 3776/16748)...	-	Apr 25, 2021 (155)
116	8.3KJPN Submission ignored due to conflicting rows: Row 3286580 (NC_000001.10:100186390:AC: 2709/16748) Row 3286581 (NC_000001.10:100186390::AC 831/16748) Row 3286582 (NC_000001.10:100186390:ACACACACAC: 3776/16748)...	-	Apr 25, 2021 (155)
117	8.3KJPN Submission ignored due to conflicting rows: Row 3286580 (NC_000001.10:100186390:AC: 2709/16748) Row 3286581 (NC_000001.10:100186390::AC 831/16748) Row 3286582 (NC_000001.10:100186390:ACACACACAC: 3776/16748)...	-	Apr 25, 2021 (155)
118	8.3KJPN Submission ignored due to conflicting rows: Row 3286580 (NC_000001.10:100186390:AC: 2709/16748) Row 3286581 (NC_000001.10:100186390::AC 831/16748) Row 3286582 (NC_000001.10:100186390:ACACACACAC: 3776/16748)...	-	Apr 25, 2021 (155)
119	8.3KJPN Submission ignored due to conflicting rows: Row 3286580 (NC_000001.10:100186390:AC: 2709/16748) Row 3286581 (NC_000001.10:100186390::AC 831/16748) Row 3286582 (NC_000001.10:100186390:ACACACACAC: 3776/16748)...	-	Apr 25, 2021 (155)
120	8.3KJPN Submission ignored due to conflicting rows: Row 3286580 (NC_000001.10:100186390:AC: 2709/16748) Row 3286581 (NC_000001.10:100186390::AC 831/16748) Row 3286582 (NC_000001.10:100186390:ACACACACAC: 3776/16748)...	-	Apr 25, 2021 (155)
121	14KJPN Submission ignored due to conflicting rows: Row 4315005 (NC_000001.11:99720834:ACACACACAC: 6320/28180) Row 4315006 (NC_000001.11:99720834:ACACAC: 3949/28180) Row 4315007 (NC_000001.11:99720834::AC 1368/28180)...	-	Oct 12, 2022 (156)
122	14KJPN Submission ignored due to conflicting rows: Row 4315005 (NC_000001.11:99720834:ACACACACAC: 6320/28180) Row 4315006 (NC_000001.11:99720834:ACACAC: 3949/28180) Row 4315007 (NC_000001.11:99720834::AC 1368/28180)...	-	Oct 12, 2022 (156)
123	14KJPN Submission ignored due to conflicting rows: Row 4315005 (NC_000001.11:99720834:ACACACACAC: 6320/28180) Row 4315006 (NC_000001.11:99720834:ACACAC: 3949/28180) Row 4315007 (NC_000001.11:99720834::AC 1368/28180)...	-	Oct 12, 2022 (156)
124	14KJPN Submission ignored due to conflicting rows: Row 4315005 (NC_000001.11:99720834:ACACACACAC: 6320/28180) Row 4315006 (NC_000001.11:99720834:ACACAC: 3949/28180) Row 4315007 (NC_000001.11:99720834::AC 1368/28180)...	-	Oct 12, 2022 (156)
125	14KJPN Submission ignored due to conflicting rows: Row 4315005 (NC_000001.11:99720834:ACACACACAC: 6320/28180) Row 4315006 (NC_000001.11:99720834:ACACAC: 3949/28180) Row 4315007 (NC_000001.11:99720834::AC 1368/28180)...	-	Oct 12, 2022 (156)
126	14KJPN Submission ignored due to conflicting rows: Row 4315005 (NC_000001.11:99720834:ACACACACAC: 6320/28180) Row 4315006 (NC_000001.11:99720834:ACACAC: 3949/28180) Row 4315007 (NC_000001.11:99720834::AC 1368/28180)...	-	Oct 12, 2022 (156)
127	TopMed	NC_000001.11 - 99720835	Apr 25, 2021 (155)
128	UK 10K study - Twins Submission ignored due to conflicting rows: Row 1586212 (NC_000001.10:100186398:AC: 1624/3708) Row 1586213 (NC_000001.10:100186390:ACACACACAC: 818/3708) Row 1586214 (NC_000001.10:100186396:ACAC: 454/3708)	-	Apr 25, 2020 (154)
129	UK 10K study - Twins	-	Oct 11, 2018 (152)
130	UK 10K study - Twins Submission ignored due to conflicting rows: Row 1586212 (NC_000001.10:100186398:AC: 1624/3708) Row 1586213 (NC_000001.10:100186390:ACACACACAC: 818/3708) Row 1586214 (NC_000001.10:100186396:ACAC: 454/3708)	-	Apr 25, 2020 (154)
131	ALFA	NC_000001.11 - 99720835	Apr 25, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3999009268	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA	(self)
ss3999009267	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA	(self)
ss3999009266	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA	(self)
ss3999009265	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA	(self)
ss3999009264	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA	(self)
ss3999009263	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA	(self)
ss3999009262	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA	(self)
ss3999009261	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA	(self)
ss3999009260	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA	(self)
ss3999009259, ss5444277234	NC_000001.11:99720834:ACACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA	(self)
ss550974718, ss552790738	NC_000001.9:99958978:ACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
1586213, ss666103130, ss1701009763, ss1701009774, ss2987307098, ss3783496174, ss3789141157, ss3794014002, ss3836553773, ss5145317275, ss5832373392	NC_000001.10:100186390:ACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss1583561425	NC_000001.10:100186394:ACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss3687369066, ss3799576102, ss3841961767, ss3999009258, ss5243325008, ss5444277233, ss5670477901	NC_000001.11:99720834:ACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss3646731630	NC_000001.11:99720842:ACACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA	(self)
ss5145317278	NC_000001.10:100186390:ACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009257, ss5444277232, ss5670477906	NC_000001.11:99720834:ACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	(self)
ss3687369065	NC_000001.11:99720836:ACACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA	(self)
ss79913463, ss80017240, ss80020721	NC_000001.8:99898454:CACACA:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
2875254, ss1367791955, ss3826326992, ss5145317276, ss5832373395	NC_000001.10:100186390:ACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
4335	NC_000001.10:100186394:ACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3065317300, ss3799576101, ss3999009256, ss5243325010, ss5444277229, ss5670477902	NC_000001.11:99720834:ACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3687369064	NC_000001.11:99720838:ACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3646731629	NC_000001.11:99720840:ACACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss95237974	NT_032977.9:70158351:CACACA:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA	(self)
ss5145317277, ss5832373393	NC_000001.10:100186390:ACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss1709940951, ss1709940952	NC_000001.10:100186396:ACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009255, ss5444277230, ss5670477904	NC_000001.11:99720834:ACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3687369063	NC_000001.11:99720840:ACAC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3783496175, ss3789141158, ss3794014003, ss5145317273, ss5832373394	NC_000001.10:100186390:AC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss1709940949, ss1709940950	NC_000001.10:100186398:AC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3064415187, ss3999009254, ss5243325009, ss5444277231, ss5670477905	NC_000001.11:99720834:AC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3687369062	NC_000001.11:99720842:AC:	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss5145317274	NC_000001.10:100186390::AC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009244, ss5670477903	NC_000001.11:99720834::AC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3687369061	NC_000001.11:99720844::AC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009245	NC_000001.11:99720834::ACAC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009246	NC_000001.11:99720834::ACACAC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009247	NC_000001.11:99720834::ACACACAC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009248	NC_000001.11:99720834::ACACACACAC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009249	NC_000001.11:99720834::ACACACACACAC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
24337191, ss3999009250, ss4460730856	NC_000001.11:99720834::ACACACACACA… NC_000001.11:99720834::ACACACACACACAC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
14253623221	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009251	NC_000001.11:99720834::ACACACACACA… NC_000001.11:99720834::ACACACACACACACACACAC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3999009252	NC_000001.11:99720834::ACACACACACA… NC_000001.11:99720834::ACACACACACACACACACACACAC	NC_000001.11:99720834:ACACACACACAC… NC_000001.11:99720834:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs57397996

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs57397996