Name: rs58081432
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.

rs58081432

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:37033731-37033750 (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(T)₁₄ / del(T)₁₂ / del(T)₁₀ / d…
del(T)₁₄ / del(T)₁₂ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂ / dup(T)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₄=0.0000 (0/8086, ALFA)
del(T)₁₂=0.0000 (0/8086, ALFA)
del(T)₉=0.0000 (0/8086, ALFA) (+ 20 more)
del(T)₈=0.0000 (0/8086, ALFA)
del(T)₇=0.0000 (0/8086, ALFA)
del(T)₆=0.0000 (0/8086, ALFA)
del(T)₅=0.0000 (0/8086, ALFA)
del(T)₄=0.0000 (0/8086, ALFA)
delTTT=0.0000 (0/8086, ALFA)
delTT=0.0000 (0/8086, ALFA)
delT=0.0000 (0/8086, ALFA)
dupT=0.0000 (0/8086, ALFA)
dupTT=0.0000 (0/8086, ALFA)
dupTTT=0.0000 (0/8086, ALFA)
dup(T)₄=0.0000 (0/8086, ALFA)
dup(T)₅=0.0000 (0/8086, ALFA)
dup(T)₆=0.0000 (0/8086, ALFA)
dup(T)₇=0.0000 (0/8086, ALFA)
dup(T)₈=0.0000 (0/8086, ALFA)
dup(T)₉=0.0000 (0/8086, ALFA)
dup(T)₁₀=0.0000 (0/8086, ALFA)
dup(T)₁₁=0.0000 (0/8086, ALFA)
dupTT=0.29 (10/34, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NIPBL : 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	HWEP
Total	Global	8086	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	5490	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	1624	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	56	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	1568	TTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	94	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	70	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	102	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
Latin American 2	Sub	376	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	74	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	326	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	8086	(T)₂₀=1.0000	del(T)₁₄=0.0000, del(T)₁₂=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₉=0.0000, dup(T)₁₀=0.0000, dup(T)₁₁=0.0000
Allele Frequency Aggregator	European	Sub	5490	(T)₂₀=1.0000	del(T)₁₄=0.0000, del(T)₁₂=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₉=0.0000, dup(T)₁₀=0.0000, dup(T)₁₁=0.0000
Allele Frequency Aggregator	African	Sub	1624	(T)₂₀=1.0000	del(T)₁₄=0.0000, del(T)₁₂=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₉=0.0000, dup(T)₁₀=0.0000, dup(T)₁₁=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	376	(T)₂₀=1.000	del(T)₁₄=0.000, del(T)₁₂=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₉=0.000, dup(T)₁₀=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Other	Sub	326	(T)₂₀=1.000	del(T)₁₄=0.000, del(T)₁₂=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₉=0.000, dup(T)₁₀=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Latin American 1	Sub	102	(T)₂₀=1.000	del(T)₁₄=0.000, del(T)₁₂=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₉=0.000, dup(T)₁₀=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Asian	Sub	94	(T)₂₀=1.00	del(T)₁₄=0.00, del(T)₁₂=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	South Asian	Sub	74	(T)₂₀=1.00	del(T)₁₄=0.00, del(T)₁₂=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00
The Danish reference pan genome	Danish	Study-wide	34	- No frequency provided	dupTT=0.29

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 5	NC_000005.10:g.37033737_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033739_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033741_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033742_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033743_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033744_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033745_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033746_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033747_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033748_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033749_37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033750del
GRCh38.p14 chr 5	NC_000005.10:g.37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033749_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033748_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033747_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033746_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033745_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033744_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033743_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033742_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033741_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033740_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033739_37033750dup
GRCh38.p14 chr 5	NC_000005.10:g.37033738_37033750dup
GRCh37.p13 chr 5	NC_000005.9:g.37033839_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033841_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033843_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033844_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033845_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033846_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033847_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033848_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033849_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033850_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033851_37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033852del
GRCh37.p13 chr 5	NC_000005.9:g.37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033851_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033850_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033849_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033848_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033847_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033846_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033845_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033844_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033843_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033842_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033841_37033852dup
GRCh37.p13 chr 5	NC_000005.9:g.37033840_37033852dup
NIPBL RefSeqGene	NG_006987.2:g.161855_161868del
NIPBL RefSeqGene	NG_006987.2:g.161857_161868del
NIPBL RefSeqGene	NG_006987.2:g.161859_161868del
NIPBL RefSeqGene	NG_006987.2:g.161860_161868del
NIPBL RefSeqGene	NG_006987.2:g.161861_161868del
NIPBL RefSeqGene	NG_006987.2:g.161862_161868del
NIPBL RefSeqGene	NG_006987.2:g.161863_161868del
NIPBL RefSeqGene	NG_006987.2:g.161864_161868del
NIPBL RefSeqGene	NG_006987.2:g.161865_161868del
NIPBL RefSeqGene	NG_006987.2:g.161866_161868del
NIPBL RefSeqGene	NG_006987.2:g.161867_161868del
NIPBL RefSeqGene	NG_006987.2:g.161868del
NIPBL RefSeqGene	NG_006987.2:g.161868dup
NIPBL RefSeqGene	NG_006987.2:g.161867_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161866_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161865_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161864_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161863_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161862_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161861_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161860_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161859_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161858_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161857_161868dup
NIPBL RefSeqGene	NG_006987.2:g.161856_161868dup

Gene: NIPBL, NIPBL cohesin loading factor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NIPBL transcript variant B	NM_015384.5:c.5863-2642_5… NM_015384.5:c.5863-2642_5863-2629del	N/A	Intron Variant
NIPBL transcript variant A	NM_133433.4:c.5863-2642_5… NM_133433.4:c.5863-2642_5863-2629del	N/A	Intron Variant
NIPBL transcript variant X3	XM_005248280.4:c.5863-264… XM_005248280.4:c.5863-2642_5863-2629del	N/A	Intron Variant
NIPBL transcript variant X5	XM_005248282.6:c.5203-264… XM_005248282.6:c.5203-2642_5203-2629del	N/A	Intron Variant
NIPBL transcript variant X1	XM_006714467.3:c.5863-264… XM_006714467.3:c.5863-2642_5863-2629del	N/A	Intron Variant
NIPBL transcript variant X2	XM_006714468.3:c.5665-264… XM_006714468.3:c.5665-2642_5665-2629del	N/A	Intron Variant
NIPBL transcript variant X6	XM_011514015.2:c.5863-264… XM_011514015.2:c.5863-2642_5863-2629del	N/A	Intron Variant
NIPBL transcript variant X4	XM_017009329.2:c.5863-264… XM_017009329.2:c.5863-2642_5863-2629del	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	(T)₂₀=	del(T)₁₄	del(T)₁₂	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂	dup(T)₁₃
GRCh38.p14 chr 5	NC_000005.10:g.37033731_37033750=	NC_000005.10:g.37033737_37033750del	NC_000005.10:g.37033739_37033750del	NC_000005.10:g.37033741_37033750del	NC_000005.10:g.37033742_37033750del	NC_000005.10:g.37033743_37033750del	NC_000005.10:g.37033744_37033750del	NC_000005.10:g.37033745_37033750del	NC_000005.10:g.37033746_37033750del	NC_000005.10:g.37033747_37033750del	NC_000005.10:g.37033748_37033750del	NC_000005.10:g.37033749_37033750del	NC_000005.10:g.37033750del	NC_000005.10:g.37033750dup	NC_000005.10:g.37033749_37033750dup	NC_000005.10:g.37033748_37033750dup	NC_000005.10:g.37033747_37033750dup	NC_000005.10:g.37033746_37033750dup	NC_000005.10:g.37033745_37033750dup	NC_000005.10:g.37033744_37033750dup	NC_000005.10:g.37033743_37033750dup	NC_000005.10:g.37033742_37033750dup	NC_000005.10:g.37033741_37033750dup	NC_000005.10:g.37033740_37033750dup	NC_000005.10:g.37033739_37033750dup	NC_000005.10:g.37033738_37033750dup
GRCh37.p13 chr 5	NC_000005.9:g.37033833_37033852=	NC_000005.9:g.37033839_37033852del	NC_000005.9:g.37033841_37033852del	NC_000005.9:g.37033843_37033852del	NC_000005.9:g.37033844_37033852del	NC_000005.9:g.37033845_37033852del	NC_000005.9:g.37033846_37033852del	NC_000005.9:g.37033847_37033852del	NC_000005.9:g.37033848_37033852del	NC_000005.9:g.37033849_37033852del	NC_000005.9:g.37033850_37033852del	NC_000005.9:g.37033851_37033852del	NC_000005.9:g.37033852del	NC_000005.9:g.37033852dup	NC_000005.9:g.37033851_37033852dup	NC_000005.9:g.37033850_37033852dup	NC_000005.9:g.37033849_37033852dup	NC_000005.9:g.37033848_37033852dup	NC_000005.9:g.37033847_37033852dup	NC_000005.9:g.37033846_37033852dup	NC_000005.9:g.37033845_37033852dup	NC_000005.9:g.37033844_37033852dup	NC_000005.9:g.37033843_37033852dup	NC_000005.9:g.37033842_37033852dup	NC_000005.9:g.37033841_37033852dup	NC_000005.9:g.37033840_37033852dup
NIPBL RefSeqGene	NG_006987.2:g.161849_161868=	NG_006987.2:g.161855_161868del	NG_006987.2:g.161857_161868del	NG_006987.2:g.161859_161868del	NG_006987.2:g.161860_161868del	NG_006987.2:g.161861_161868del	NG_006987.2:g.161862_161868del	NG_006987.2:g.161863_161868del	NG_006987.2:g.161864_161868del	NG_006987.2:g.161865_161868del	NG_006987.2:g.161866_161868del	NG_006987.2:g.161867_161868del	NG_006987.2:g.161868del	NG_006987.2:g.161868dup	NG_006987.2:g.161867_161868dup	NG_006987.2:g.161866_161868dup	NG_006987.2:g.161865_161868dup	NG_006987.2:g.161864_161868dup	NG_006987.2:g.161863_161868dup	NG_006987.2:g.161862_161868dup	NG_006987.2:g.161861_161868dup	NG_006987.2:g.161860_161868dup	NG_006987.2:g.161859_161868dup	NG_006987.2:g.161858_161868dup	NG_006987.2:g.161857_161868dup	NG_006987.2:g.161856_161868dup
NIPBL transcript variant B	NM_015384.4:c.5863-2648=	NM_015384.4:c.5863-2642_5863-2629del	NM_015384.4:c.5863-2640_5863-2629del	NM_015384.4:c.5863-2638_5863-2629del	NM_015384.4:c.5863-2637_5863-2629del	NM_015384.4:c.5863-2636_5863-2629del	NM_015384.4:c.5863-2635_5863-2629del	NM_015384.4:c.5863-2634_5863-2629del	NM_015384.4:c.5863-2633_5863-2629del	NM_015384.4:c.5863-2632_5863-2629del	NM_015384.4:c.5863-2631_5863-2629del	NM_015384.4:c.5863-2630_5863-2629del	NM_015384.4:c.5863-2629del	NM_015384.4:c.5863-2629dup	NM_015384.4:c.5863-2630_5863-2629dup	NM_015384.4:c.5863-2631_5863-2629dup	NM_015384.4:c.5863-2632_5863-2629dup	NM_015384.4:c.5863-2633_5863-2629dup	NM_015384.4:c.5863-2634_5863-2629dup	NM_015384.4:c.5863-2635_5863-2629dup	NM_015384.4:c.5863-2636_5863-2629dup	NM_015384.4:c.5863-2637_5863-2629dup	NM_015384.4:c.5863-2638_5863-2629dup	NM_015384.4:c.5863-2639_5863-2629dup	NM_015384.4:c.5863-2640_5863-2629dup	NM_015384.4:c.5863-2641_5863-2629dup
NIPBL transcript variant B	NM_015384.5:c.5863-2648=	NM_015384.5:c.5863-2642_5863-2629del	NM_015384.5:c.5863-2640_5863-2629del	NM_015384.5:c.5863-2638_5863-2629del	NM_015384.5:c.5863-2637_5863-2629del	NM_015384.5:c.5863-2636_5863-2629del	NM_015384.5:c.5863-2635_5863-2629del	NM_015384.5:c.5863-2634_5863-2629del	NM_015384.5:c.5863-2633_5863-2629del	NM_015384.5:c.5863-2632_5863-2629del	NM_015384.5:c.5863-2631_5863-2629del	NM_015384.5:c.5863-2630_5863-2629del	NM_015384.5:c.5863-2629del	NM_015384.5:c.5863-2629dup	NM_015384.5:c.5863-2630_5863-2629dup	NM_015384.5:c.5863-2631_5863-2629dup	NM_015384.5:c.5863-2632_5863-2629dup	NM_015384.5:c.5863-2633_5863-2629dup	NM_015384.5:c.5863-2634_5863-2629dup	NM_015384.5:c.5863-2635_5863-2629dup	NM_015384.5:c.5863-2636_5863-2629dup	NM_015384.5:c.5863-2637_5863-2629dup	NM_015384.5:c.5863-2638_5863-2629dup	NM_015384.5:c.5863-2639_5863-2629dup	NM_015384.5:c.5863-2640_5863-2629dup	NM_015384.5:c.5863-2641_5863-2629dup
NIPBL transcript variant A	NM_133433.3:c.5863-2648=	NM_133433.3:c.5863-2642_5863-2629del	NM_133433.3:c.5863-2640_5863-2629del	NM_133433.3:c.5863-2638_5863-2629del	NM_133433.3:c.5863-2637_5863-2629del	NM_133433.3:c.5863-2636_5863-2629del	NM_133433.3:c.5863-2635_5863-2629del	NM_133433.3:c.5863-2634_5863-2629del	NM_133433.3:c.5863-2633_5863-2629del	NM_133433.3:c.5863-2632_5863-2629del	NM_133433.3:c.5863-2631_5863-2629del	NM_133433.3:c.5863-2630_5863-2629del	NM_133433.3:c.5863-2629del	NM_133433.3:c.5863-2629dup	NM_133433.3:c.5863-2630_5863-2629dup	NM_133433.3:c.5863-2631_5863-2629dup	NM_133433.3:c.5863-2632_5863-2629dup	NM_133433.3:c.5863-2633_5863-2629dup	NM_133433.3:c.5863-2634_5863-2629dup	NM_133433.3:c.5863-2635_5863-2629dup	NM_133433.3:c.5863-2636_5863-2629dup	NM_133433.3:c.5863-2637_5863-2629dup	NM_133433.3:c.5863-2638_5863-2629dup	NM_133433.3:c.5863-2639_5863-2629dup	NM_133433.3:c.5863-2640_5863-2629dup	NM_133433.3:c.5863-2641_5863-2629dup
NIPBL transcript variant A	NM_133433.4:c.5863-2648=	NM_133433.4:c.5863-2642_5863-2629del	NM_133433.4:c.5863-2640_5863-2629del	NM_133433.4:c.5863-2638_5863-2629del	NM_133433.4:c.5863-2637_5863-2629del	NM_133433.4:c.5863-2636_5863-2629del	NM_133433.4:c.5863-2635_5863-2629del	NM_133433.4:c.5863-2634_5863-2629del	NM_133433.4:c.5863-2633_5863-2629del	NM_133433.4:c.5863-2632_5863-2629del	NM_133433.4:c.5863-2631_5863-2629del	NM_133433.4:c.5863-2630_5863-2629del	NM_133433.4:c.5863-2629del	NM_133433.4:c.5863-2629dup	NM_133433.4:c.5863-2630_5863-2629dup	NM_133433.4:c.5863-2631_5863-2629dup	NM_133433.4:c.5863-2632_5863-2629dup	NM_133433.4:c.5863-2633_5863-2629dup	NM_133433.4:c.5863-2634_5863-2629dup	NM_133433.4:c.5863-2635_5863-2629dup	NM_133433.4:c.5863-2636_5863-2629dup	NM_133433.4:c.5863-2637_5863-2629dup	NM_133433.4:c.5863-2638_5863-2629dup	NM_133433.4:c.5863-2639_5863-2629dup	NM_133433.4:c.5863-2640_5863-2629dup	NM_133433.4:c.5863-2641_5863-2629dup
NIPBL transcript variant X1	XM_005248280.1:c.5863-2648=	XM_005248280.1:c.5863-2642_5863-2629del	XM_005248280.1:c.5863-2640_5863-2629del	XM_005248280.1:c.5863-2638_5863-2629del	XM_005248280.1:c.5863-2637_5863-2629del	XM_005248280.1:c.5863-2636_5863-2629del	XM_005248280.1:c.5863-2635_5863-2629del	XM_005248280.1:c.5863-2634_5863-2629del	XM_005248280.1:c.5863-2633_5863-2629del	XM_005248280.1:c.5863-2632_5863-2629del	XM_005248280.1:c.5863-2631_5863-2629del	XM_005248280.1:c.5863-2630_5863-2629del	XM_005248280.1:c.5863-2629del	XM_005248280.1:c.5863-2629dup	XM_005248280.1:c.5863-2630_5863-2629dup	XM_005248280.1:c.5863-2631_5863-2629dup	XM_005248280.1:c.5863-2632_5863-2629dup	XM_005248280.1:c.5863-2633_5863-2629dup	XM_005248280.1:c.5863-2634_5863-2629dup	XM_005248280.1:c.5863-2635_5863-2629dup	XM_005248280.1:c.5863-2636_5863-2629dup	XM_005248280.1:c.5863-2637_5863-2629dup	XM_005248280.1:c.5863-2638_5863-2629dup	XM_005248280.1:c.5863-2639_5863-2629dup	XM_005248280.1:c.5863-2640_5863-2629dup	XM_005248280.1:c.5863-2641_5863-2629dup
NIPBL transcript variant X3	XM_005248280.4:c.5863-2648=	XM_005248280.4:c.5863-2642_5863-2629del	XM_005248280.4:c.5863-2640_5863-2629del	XM_005248280.4:c.5863-2638_5863-2629del	XM_005248280.4:c.5863-2637_5863-2629del	XM_005248280.4:c.5863-2636_5863-2629del	XM_005248280.4:c.5863-2635_5863-2629del	XM_005248280.4:c.5863-2634_5863-2629del	XM_005248280.4:c.5863-2633_5863-2629del	XM_005248280.4:c.5863-2632_5863-2629del	XM_005248280.4:c.5863-2631_5863-2629del	XM_005248280.4:c.5863-2630_5863-2629del	XM_005248280.4:c.5863-2629del	XM_005248280.4:c.5863-2629dup	XM_005248280.4:c.5863-2630_5863-2629dup	XM_005248280.4:c.5863-2631_5863-2629dup	XM_005248280.4:c.5863-2632_5863-2629dup	XM_005248280.4:c.5863-2633_5863-2629dup	XM_005248280.4:c.5863-2634_5863-2629dup	XM_005248280.4:c.5863-2635_5863-2629dup	XM_005248280.4:c.5863-2636_5863-2629dup	XM_005248280.4:c.5863-2637_5863-2629dup	XM_005248280.4:c.5863-2638_5863-2629dup	XM_005248280.4:c.5863-2639_5863-2629dup	XM_005248280.4:c.5863-2640_5863-2629dup	XM_005248280.4:c.5863-2641_5863-2629dup
NIPBL transcript variant X2	XM_005248281.1:c.5503-2648=	XM_005248281.1:c.5503-2642_5503-2629del	XM_005248281.1:c.5503-2640_5503-2629del	XM_005248281.1:c.5503-2638_5503-2629del	XM_005248281.1:c.5503-2637_5503-2629del	XM_005248281.1:c.5503-2636_5503-2629del	XM_005248281.1:c.5503-2635_5503-2629del	XM_005248281.1:c.5503-2634_5503-2629del	XM_005248281.1:c.5503-2633_5503-2629del	XM_005248281.1:c.5503-2632_5503-2629del	XM_005248281.1:c.5503-2631_5503-2629del	XM_005248281.1:c.5503-2630_5503-2629del	XM_005248281.1:c.5503-2629del	XM_005248281.1:c.5503-2629dup	XM_005248281.1:c.5503-2630_5503-2629dup	XM_005248281.1:c.5503-2631_5503-2629dup	XM_005248281.1:c.5503-2632_5503-2629dup	XM_005248281.1:c.5503-2633_5503-2629dup	XM_005248281.1:c.5503-2634_5503-2629dup	XM_005248281.1:c.5503-2635_5503-2629dup	XM_005248281.1:c.5503-2636_5503-2629dup	XM_005248281.1:c.5503-2637_5503-2629dup	XM_005248281.1:c.5503-2638_5503-2629dup	XM_005248281.1:c.5503-2639_5503-2629dup	XM_005248281.1:c.5503-2640_5503-2629dup	XM_005248281.1:c.5503-2641_5503-2629dup
NIPBL transcript variant X3	XM_005248282.1:c.5203-2648=	XM_005248282.1:c.5203-2642_5203-2629del	XM_005248282.1:c.5203-2640_5203-2629del	XM_005248282.1:c.5203-2638_5203-2629del	XM_005248282.1:c.5203-2637_5203-2629del	XM_005248282.1:c.5203-2636_5203-2629del	XM_005248282.1:c.5203-2635_5203-2629del	XM_005248282.1:c.5203-2634_5203-2629del	XM_005248282.1:c.5203-2633_5203-2629del	XM_005248282.1:c.5203-2632_5203-2629del	XM_005248282.1:c.5203-2631_5203-2629del	XM_005248282.1:c.5203-2630_5203-2629del	XM_005248282.1:c.5203-2629del	XM_005248282.1:c.5203-2629dup	XM_005248282.1:c.5203-2630_5203-2629dup	XM_005248282.1:c.5203-2631_5203-2629dup	XM_005248282.1:c.5203-2632_5203-2629dup	XM_005248282.1:c.5203-2633_5203-2629dup	XM_005248282.1:c.5203-2634_5203-2629dup	XM_005248282.1:c.5203-2635_5203-2629dup	XM_005248282.1:c.5203-2636_5203-2629dup	XM_005248282.1:c.5203-2637_5203-2629dup	XM_005248282.1:c.5203-2638_5203-2629dup	XM_005248282.1:c.5203-2639_5203-2629dup	XM_005248282.1:c.5203-2640_5203-2629dup	XM_005248282.1:c.5203-2641_5203-2629dup
NIPBL transcript variant X5	XM_005248282.6:c.5203-2648=	XM_005248282.6:c.5203-2642_5203-2629del	XM_005248282.6:c.5203-2640_5203-2629del	XM_005248282.6:c.5203-2638_5203-2629del	XM_005248282.6:c.5203-2637_5203-2629del	XM_005248282.6:c.5203-2636_5203-2629del	XM_005248282.6:c.5203-2635_5203-2629del	XM_005248282.6:c.5203-2634_5203-2629del	XM_005248282.6:c.5203-2633_5203-2629del	XM_005248282.6:c.5203-2632_5203-2629del	XM_005248282.6:c.5203-2631_5203-2629del	XM_005248282.6:c.5203-2630_5203-2629del	XM_005248282.6:c.5203-2629del	XM_005248282.6:c.5203-2629dup	XM_005248282.6:c.5203-2630_5203-2629dup	XM_005248282.6:c.5203-2631_5203-2629dup	XM_005248282.6:c.5203-2632_5203-2629dup	XM_005248282.6:c.5203-2633_5203-2629dup	XM_005248282.6:c.5203-2634_5203-2629dup	XM_005248282.6:c.5203-2635_5203-2629dup	XM_005248282.6:c.5203-2636_5203-2629dup	XM_005248282.6:c.5203-2637_5203-2629dup	XM_005248282.6:c.5203-2638_5203-2629dup	XM_005248282.6:c.5203-2639_5203-2629dup	XM_005248282.6:c.5203-2640_5203-2629dup	XM_005248282.6:c.5203-2641_5203-2629dup
NIPBL transcript variant X4	XM_005248283.1:c.4246-2648=	XM_005248283.1:c.4246-2642_4246-2629del	XM_005248283.1:c.4246-2640_4246-2629del	XM_005248283.1:c.4246-2638_4246-2629del	XM_005248283.1:c.4246-2637_4246-2629del	XM_005248283.1:c.4246-2636_4246-2629del	XM_005248283.1:c.4246-2635_4246-2629del	XM_005248283.1:c.4246-2634_4246-2629del	XM_005248283.1:c.4246-2633_4246-2629del	XM_005248283.1:c.4246-2632_4246-2629del	XM_005248283.1:c.4246-2631_4246-2629del	XM_005248283.1:c.4246-2630_4246-2629del	XM_005248283.1:c.4246-2629del	XM_005248283.1:c.4246-2629dup	XM_005248283.1:c.4246-2630_4246-2629dup	XM_005248283.1:c.4246-2631_4246-2629dup	XM_005248283.1:c.4246-2632_4246-2629dup	XM_005248283.1:c.4246-2633_4246-2629dup	XM_005248283.1:c.4246-2634_4246-2629dup	XM_005248283.1:c.4246-2635_4246-2629dup	XM_005248283.1:c.4246-2636_4246-2629dup	XM_005248283.1:c.4246-2637_4246-2629dup	XM_005248283.1:c.4246-2638_4246-2629dup	XM_005248283.1:c.4246-2639_4246-2629dup	XM_005248283.1:c.4246-2640_4246-2629dup	XM_005248283.1:c.4246-2641_4246-2629dup
NIPBL transcript variant X1	XM_006714467.3:c.5863-2648=	XM_006714467.3:c.5863-2642_5863-2629del	XM_006714467.3:c.5863-2640_5863-2629del	XM_006714467.3:c.5863-2638_5863-2629del	XM_006714467.3:c.5863-2637_5863-2629del	XM_006714467.3:c.5863-2636_5863-2629del	XM_006714467.3:c.5863-2635_5863-2629del	XM_006714467.3:c.5863-2634_5863-2629del	XM_006714467.3:c.5863-2633_5863-2629del	XM_006714467.3:c.5863-2632_5863-2629del	XM_006714467.3:c.5863-2631_5863-2629del	XM_006714467.3:c.5863-2630_5863-2629del	XM_006714467.3:c.5863-2629del	XM_006714467.3:c.5863-2629dup	XM_006714467.3:c.5863-2630_5863-2629dup	XM_006714467.3:c.5863-2631_5863-2629dup	XM_006714467.3:c.5863-2632_5863-2629dup	XM_006714467.3:c.5863-2633_5863-2629dup	XM_006714467.3:c.5863-2634_5863-2629dup	XM_006714467.3:c.5863-2635_5863-2629dup	XM_006714467.3:c.5863-2636_5863-2629dup	XM_006714467.3:c.5863-2637_5863-2629dup	XM_006714467.3:c.5863-2638_5863-2629dup	XM_006714467.3:c.5863-2639_5863-2629dup	XM_006714467.3:c.5863-2640_5863-2629dup	XM_006714467.3:c.5863-2641_5863-2629dup
NIPBL transcript variant X2	XM_006714468.3:c.5665-2648=	XM_006714468.3:c.5665-2642_5665-2629del	XM_006714468.3:c.5665-2640_5665-2629del	XM_006714468.3:c.5665-2638_5665-2629del	XM_006714468.3:c.5665-2637_5665-2629del	XM_006714468.3:c.5665-2636_5665-2629del	XM_006714468.3:c.5665-2635_5665-2629del	XM_006714468.3:c.5665-2634_5665-2629del	XM_006714468.3:c.5665-2633_5665-2629del	XM_006714468.3:c.5665-2632_5665-2629del	XM_006714468.3:c.5665-2631_5665-2629del	XM_006714468.3:c.5665-2630_5665-2629del	XM_006714468.3:c.5665-2629del	XM_006714468.3:c.5665-2629dup	XM_006714468.3:c.5665-2630_5665-2629dup	XM_006714468.3:c.5665-2631_5665-2629dup	XM_006714468.3:c.5665-2632_5665-2629dup	XM_006714468.3:c.5665-2633_5665-2629dup	XM_006714468.3:c.5665-2634_5665-2629dup	XM_006714468.3:c.5665-2635_5665-2629dup	XM_006714468.3:c.5665-2636_5665-2629dup	XM_006714468.3:c.5665-2637_5665-2629dup	XM_006714468.3:c.5665-2638_5665-2629dup	XM_006714468.3:c.5665-2639_5665-2629dup	XM_006714468.3:c.5665-2640_5665-2629dup	XM_006714468.3:c.5665-2641_5665-2629dup
NIPBL transcript variant X6	XM_011514015.2:c.5863-2648=	XM_011514015.2:c.5863-2642_5863-2629del	XM_011514015.2:c.5863-2640_5863-2629del	XM_011514015.2:c.5863-2638_5863-2629del	XM_011514015.2:c.5863-2637_5863-2629del	XM_011514015.2:c.5863-2636_5863-2629del	XM_011514015.2:c.5863-2635_5863-2629del	XM_011514015.2:c.5863-2634_5863-2629del	XM_011514015.2:c.5863-2633_5863-2629del	XM_011514015.2:c.5863-2632_5863-2629del	XM_011514015.2:c.5863-2631_5863-2629del	XM_011514015.2:c.5863-2630_5863-2629del	XM_011514015.2:c.5863-2629del	XM_011514015.2:c.5863-2629dup	XM_011514015.2:c.5863-2630_5863-2629dup	XM_011514015.2:c.5863-2631_5863-2629dup	XM_011514015.2:c.5863-2632_5863-2629dup	XM_011514015.2:c.5863-2633_5863-2629dup	XM_011514015.2:c.5863-2634_5863-2629dup	XM_011514015.2:c.5863-2635_5863-2629dup	XM_011514015.2:c.5863-2636_5863-2629dup	XM_011514015.2:c.5863-2637_5863-2629dup	XM_011514015.2:c.5863-2638_5863-2629dup	XM_011514015.2:c.5863-2639_5863-2629dup	XM_011514015.2:c.5863-2640_5863-2629dup	XM_011514015.2:c.5863-2641_5863-2629dup
NIPBL transcript variant X4	XM_017009329.2:c.5863-2648=	XM_017009329.2:c.5863-2642_5863-2629del	XM_017009329.2:c.5863-2640_5863-2629del	XM_017009329.2:c.5863-2638_5863-2629del	XM_017009329.2:c.5863-2637_5863-2629del	XM_017009329.2:c.5863-2636_5863-2629del	XM_017009329.2:c.5863-2635_5863-2629del	XM_017009329.2:c.5863-2634_5863-2629del	XM_017009329.2:c.5863-2633_5863-2629del	XM_017009329.2:c.5863-2632_5863-2629del	XM_017009329.2:c.5863-2631_5863-2629del	XM_017009329.2:c.5863-2630_5863-2629del	XM_017009329.2:c.5863-2629del	XM_017009329.2:c.5863-2629dup	XM_017009329.2:c.5863-2630_5863-2629dup	XM_017009329.2:c.5863-2631_5863-2629dup	XM_017009329.2:c.5863-2632_5863-2629dup	XM_017009329.2:c.5863-2633_5863-2629dup	XM_017009329.2:c.5863-2634_5863-2629dup	XM_017009329.2:c.5863-2635_5863-2629dup	XM_017009329.2:c.5863-2636_5863-2629dup	XM_017009329.2:c.5863-2637_5863-2629dup	XM_017009329.2:c.5863-2638_5863-2629dup	XM_017009329.2:c.5863-2639_5863-2629dup	XM_017009329.2:c.5863-2640_5863-2629dup	XM_017009329.2:c.5863-2641_5863-2629dup

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#.

32 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81103083	Dec 14, 2007 (129)
2	EVA_GENOME_DK	ss1576496963	Apr 01, 2015 (144)
3	PACBIO	ss3785084005	Jul 13, 2019 (153)
4	PACBIO	ss3790494718	Jul 13, 2019 (153)
5	PACBIO	ss3795371150	Jul 13, 2019 (153)
6	GNOMAD	ss4102586397	Apr 26, 2021 (155)
7	GNOMAD	ss4102586421	Apr 26, 2021 (155)
8	GNOMAD	ss4102586422	Apr 26, 2021 (155)
9	GNOMAD	ss4102586423	Apr 26, 2021 (155)
10	GNOMAD	ss4102586424	Apr 26, 2021 (155)
11	GNOMAD	ss4102586425	Apr 26, 2021 (155)
12	GNOMAD	ss4102586426	Apr 26, 2021 (155)
13	GNOMAD	ss4102586427	Apr 26, 2021 (155)
14	GNOMAD	ss4102586428	Apr 26, 2021 (155)
15	GNOMAD	ss4102586429	Apr 26, 2021 (155)
16	GNOMAD	ss4102586430	Apr 26, 2021 (155)
17	GNOMAD	ss4102586431	Apr 26, 2021 (155)
18	GNOMAD	ss4102586432	Apr 26, 2021 (155)
19	GNOMAD	ss4102586433	Apr 26, 2021 (155)
20	GNOMAD	ss4102586434	Apr 26, 2021 (155)
21	GNOMAD	ss4102586435	Apr 26, 2021 (155)
22	GNOMAD	ss4102586436	Apr 26, 2021 (155)
23	GNOMAD	ss4102586437	Apr 26, 2021 (155)
24	GNOMAD	ss4102586438	Apr 26, 2021 (155)
25	GNOMAD	ss4102586439	Apr 26, 2021 (155)
26	GNOMAD	ss4102586440	Apr 26, 2021 (155)
27	GNOMAD	ss4102586441	Apr 26, 2021 (155)
28	GNOMAD	ss4102586442	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5707155164	Oct 17, 2022 (156)
30	TOMMO_GENOMICS	ss5707155165	Oct 17, 2022 (156)
31	TOMMO_GENOMICS	ss5707155166	Oct 17, 2022 (156)
32	TOMMO_GENOMICS	ss5707155167	Oct 17, 2022 (156)
33	The Danish reference pan genome	NC_000005.9 - 37033833	Apr 26, 2020 (154)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185461021 (NC_000005.10:37033730::T 284/19856) Row 185461045 (NC_000005.10:37033730::TT 1443/19834) Row 185461046 (NC_000005.10:37033730::TTT 11/19856)...	-	Apr 26, 2021 (155)
57	14KJPN Submission ignored due to conflicting rows: Row 40992268 (NC_000005.10:37033730::TT 3887/26576) Row 40992269 (NC_000005.10:37033730:T: 648/26576) Row 40992270 (NC_000005.10:37033730::TTTTTT 475/26576)...	-	Oct 17, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 40992268 (NC_000005.10:37033730::TT 3887/26576) Row 40992269 (NC_000005.10:37033730:T: 648/26576) Row 40992270 (NC_000005.10:37033730::TTTTTT 475/26576)...	-	Oct 17, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 40992268 (NC_000005.10:37033730::TT 3887/26576) Row 40992269 (NC_000005.10:37033730:T: 648/26576) Row 40992270 (NC_000005.10:37033730::TTTTTT 475/26576)...	-	Oct 17, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 40992268 (NC_000005.10:37033730::TT 3887/26576) Row 40992269 (NC_000005.10:37033730:T: 648/26576) Row 40992270 (NC_000005.10:37033730::TTTTTT 475/26576)...	-	Oct 17, 2022 (156)
61	ALFA	NC_000005.10 - 37033731	Apr 26, 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
ss4102586442	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTT	(self)
ss4102586441	NC_000005.10:37033730:TTTTTTTTTTTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
ss4102586440	NC_000005.10:37033730:TTTTTTTTTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4102586439	NC_000005.10:37033730:TTTTTTTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4102586438	NC_000005.10:37033730:TTTTTTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4102586437	NC_000005.10:37033730:TTTTTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4102586436	NC_000005.10:37033730:TTTTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4102586435	NC_000005.10:37033730:TTTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4102586434, ss5707155167	NC_000005.10:37033730:TTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4102586433	NC_000005.10:37033730:TT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4102586432, ss5707155165	NC_000005.10:37033730:T:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4102586397	NC_000005.10:37033730::T	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
989951, ss1576496963	NC_000005.9:37033832::TT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586421, ss5707155164	NC_000005.10:37033730::TT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586422	NC_000005.10:37033730::TTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586423	NC_000005.10:37033730::TTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586424	NC_000005.10:37033730::TTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss81103083	NT_006576.16:37023852::TTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3785084005, ss3790494718, ss3795371150	NC_000005.9:37033832::TTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5707155166	NC_000005.10:37033730::TTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586425	NC_000005.10:37033730::TTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586426	NC_000005.10:37033730::TTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586427	NC_000005.10:37033730::TTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586428	NC_000005.10:37033730::TTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586429	NC_000005.10:37033730::TTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
1354406045	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586430	NC_000005.10:37033730::TTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4102586431	NC_000005.10:37033730::TTTTTTTTTTT… NC_000005.10:37033730::TTTTTTTTTTTTT	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3461178534	NC_000005.10:37033730:TTTTTTTTT:	NC_000005.10:37033730:TTTTTTTTTTTT… NC_000005.10:37033730:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

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

No publications for rs58081432

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

rs58081432