Name: rs67319421
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.

rs67319421

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:114568756-114568779 (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)₁₅ / del(T)₁₄ / del(T)₁₃ / d…
del(T)₁₅ / del(T)₁₄ / del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₁₀ / dup(T)₁₁ / ins(T)₂₅
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₅=0.00000 (0/11898, ALFA)
del(T)₁₄=0.00000 (0/11898, ALFA)
del(T)₁₃=0.00000 (0/11898, ALFA) (+ 16 more)
del(T)₁₂=0.00000 (0/11898, ALFA)
del(T)₁₁=0.00000 (0/11898, ALFA)
del(T)₁₀=0.00000 (0/11898, ALFA)
del(T)₉=0.00000 (0/11898, ALFA)
del(T)₈=0.00000 (0/11898, ALFA)
del(T)₇=0.00000 (0/11898, ALFA)
del(T)₆=0.00000 (0/11898, ALFA)
del(T)₅=0.00000 (0/11898, ALFA)
delTTT=0.00000 (0/11898, ALFA)
delTT=0.00000 (0/11898, ALFA)
delT=0.00000 (0/11898, ALFA)
dupT=0.00000 (0/11898, ALFA)
dupTT=0.00000 (0/11898, ALFA)
dup(T)₄=0.00000 (0/11898, ALFA)
ins(T)₂₅=0.014 (8/588, NorthernSweden)
delT=0.20 (8/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BCAS2 : 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	11898	TTTTTTTTTTTTTTTTTTTTTTTT=1.00000	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	1.0	N/A
European	Sub	8870	TTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	1746	TTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	68	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	1678	TTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	102	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
East Asian	Sub	78	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	116	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
Latin American 2	Sub	554	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	90	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	420	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=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	11898	(T)₂₄=1.00000	del(T)₁₅=0.00000, del(T)₁₄=0.00000, del(T)₁₃=0.00000, del(T)₁₂=0.00000, del(T)₁₁=0.00000, del(T)₁₀=0.00000, del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₅=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00000, dupTT=0.00000, dup(T)₄=0.00000
Allele Frequency Aggregator	European	Sub	8870	(T)₂₄=1.0000	del(T)₁₅=0.0000, del(T)₁₄=0.0000, del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=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, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	African	Sub	1746	(T)₂₄=1.0000	del(T)₁₅=0.0000, del(T)₁₄=0.0000, del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=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, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dup(T)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	554	(T)₂₄=1.000	del(T)₁₅=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=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, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Other	Sub	420	(T)₂₄=1.000	del(T)₁₅=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=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, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	116	(T)₂₄=1.000	del(T)₁₅=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=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, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	Asian	Sub	102	(T)₂₄=1.000	del(T)₁₅=0.000, del(T)₁₄=0.000, del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=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, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	90	(T)₂₄=1.00	del(T)₁₅=0.00, del(T)₁₄=0.00, del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=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, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₄=0.00
Northern Sweden	ACPOP	Study-wide	588	- No frequency provided	ins(T)₂₅=0.014
The Danish reference pan genome	Danish	Study-wide	40	(T)₂₄=0.80	delT=0.20

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.114568765_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568766_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568767_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568768_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568769_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568770_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568771_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568772_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568773_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568774_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568775_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568777_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568778_114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568779del
GRCh38.p14 chr 1	NC_000001.11:g.114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568778_114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568777_114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568776_114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568775_114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568774_114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568773_114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568772_114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568770_114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568769_114568779dup
GRCh38.p14 chr 1	NC_000001.11:g.114568779_114568780insTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.115111386_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111387_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111388_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111389_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111390_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111391_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111392_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111393_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111394_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111395_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111396_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111398_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111399_115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111400del
GRCh37.p13 chr 1	NC_000001.10:g.115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111399_115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111398_115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111397_115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111396_115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111395_115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111394_115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111393_115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111391_115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111390_115111400dup
GRCh37.p13 chr 1	NC_000001.10:g.115111400_115111401insTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: BCAS2, BCAS2 pre-mRNA processing factor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BCAS2 transcript	NM_005872.3:c.552-514_552… NM_005872.3:c.552-514_552-500del	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)₂₄=	del(T)₁₅	del(T)₁₄	del(T)₁₃	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₁₀	dup(T)₁₁	ins(T)₂₅
GRCh38.p14 chr 1	NC_000001.11:g.114568756_114568779=	NC_000001.11:g.114568765_114568779del	NC_000001.11:g.114568766_114568779del	NC_000001.11:g.114568767_114568779del	NC_000001.11:g.114568768_114568779del	NC_000001.11:g.114568769_114568779del	NC_000001.11:g.114568770_114568779del	NC_000001.11:g.114568771_114568779del	NC_000001.11:g.114568772_114568779del	NC_000001.11:g.114568773_114568779del	NC_000001.11:g.114568774_114568779del	NC_000001.11:g.114568775_114568779del	NC_000001.11:g.114568777_114568779del	NC_000001.11:g.114568778_114568779del	NC_000001.11:g.114568779del	NC_000001.11:g.114568779dup	NC_000001.11:g.114568778_114568779dup	NC_000001.11:g.114568777_114568779dup	NC_000001.11:g.114568776_114568779dup	NC_000001.11:g.114568775_114568779dup	NC_000001.11:g.114568774_114568779dup	NC_000001.11:g.114568773_114568779dup	NC_000001.11:g.114568772_114568779dup	NC_000001.11:g.114568770_114568779dup	NC_000001.11:g.114568769_114568779dup	NC_000001.11:g.114568779_114568780insTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.115111377_115111400=	NC_000001.10:g.115111386_115111400del	NC_000001.10:g.115111387_115111400del	NC_000001.10:g.115111388_115111400del	NC_000001.10:g.115111389_115111400del	NC_000001.10:g.115111390_115111400del	NC_000001.10:g.115111391_115111400del	NC_000001.10:g.115111392_115111400del	NC_000001.10:g.115111393_115111400del	NC_000001.10:g.115111394_115111400del	NC_000001.10:g.115111395_115111400del	NC_000001.10:g.115111396_115111400del	NC_000001.10:g.115111398_115111400del	NC_000001.10:g.115111399_115111400del	NC_000001.10:g.115111400del	NC_000001.10:g.115111400dup	NC_000001.10:g.115111399_115111400dup	NC_000001.10:g.115111398_115111400dup	NC_000001.10:g.115111397_115111400dup	NC_000001.10:g.115111396_115111400dup	NC_000001.10:g.115111395_115111400dup	NC_000001.10:g.115111394_115111400dup	NC_000001.10:g.115111393_115111400dup	NC_000001.10:g.115111391_115111400dup	NC_000001.10:g.115111390_115111400dup	NC_000001.10:g.115111400_115111401insTTTTTTTTTTTTTTTTTTTTTTTTT
BCAS2 transcript	NM_005872.2:c.552-500=	NM_005872.2:c.552-514_552-500del	NM_005872.2:c.552-513_552-500del	NM_005872.2:c.552-512_552-500del	NM_005872.2:c.552-511_552-500del	NM_005872.2:c.552-510_552-500del	NM_005872.2:c.552-509_552-500del	NM_005872.2:c.552-508_552-500del	NM_005872.2:c.552-507_552-500del	NM_005872.2:c.552-506_552-500del	NM_005872.2:c.552-505_552-500del	NM_005872.2:c.552-504_552-500del	NM_005872.2:c.552-502_552-500del	NM_005872.2:c.552-501_552-500del	NM_005872.2:c.552-500del	NM_005872.2:c.552-500dup	NM_005872.2:c.552-501_552-500dup	NM_005872.2:c.552-502_552-500dup	NM_005872.2:c.552-503_552-500dup	NM_005872.2:c.552-504_552-500dup	NM_005872.2:c.552-505_552-500dup	NM_005872.2:c.552-506_552-500dup	NM_005872.2:c.552-507_552-500dup	NM_005872.2:c.552-509_552-500dup	NM_005872.2:c.552-510_552-500dup	NM_005872.2:c.552-500_552-499insAAAAAAAAAAAAAAAAAAAAAAAAA
BCAS2 transcript	NM_005872.3:c.552-500=	NM_005872.3:c.552-514_552-500del	NM_005872.3:c.552-513_552-500del	NM_005872.3:c.552-512_552-500del	NM_005872.3:c.552-511_552-500del	NM_005872.3:c.552-510_552-500del	NM_005872.3:c.552-509_552-500del	NM_005872.3:c.552-508_552-500del	NM_005872.3:c.552-507_552-500del	NM_005872.3:c.552-506_552-500del	NM_005872.3:c.552-505_552-500del	NM_005872.3:c.552-504_552-500del	NM_005872.3:c.552-502_552-500del	NM_005872.3:c.552-501_552-500del	NM_005872.3:c.552-500del	NM_005872.3:c.552-500dup	NM_005872.3:c.552-501_552-500dup	NM_005872.3:c.552-502_552-500dup	NM_005872.3:c.552-503_552-500dup	NM_005872.3:c.552-504_552-500dup	NM_005872.3:c.552-505_552-500dup	NM_005872.3:c.552-506_552-500dup	NM_005872.3:c.552-507_552-500dup	NM_005872.3:c.552-509_552-500dup	NM_005872.3:c.552-510_552-500dup	NM_005872.3:c.552-500_552-499insAAAAAAAAAAAAAAAAAAAAAAAAA
BCAS2 transcript variant X1	XM_005270349.1:c.222-500=	XM_005270349.1:c.222-514_222-500del	XM_005270349.1:c.222-513_222-500del	XM_005270349.1:c.222-512_222-500del	XM_005270349.1:c.222-511_222-500del	XM_005270349.1:c.222-510_222-500del	XM_005270349.1:c.222-509_222-500del	XM_005270349.1:c.222-508_222-500del	XM_005270349.1:c.222-507_222-500del	XM_005270349.1:c.222-506_222-500del	XM_005270349.1:c.222-505_222-500del	XM_005270349.1:c.222-504_222-500del	XM_005270349.1:c.222-502_222-500del	XM_005270349.1:c.222-501_222-500del	XM_005270349.1:c.222-500del	XM_005270349.1:c.222-500dup	XM_005270349.1:c.222-501_222-500dup	XM_005270349.1:c.222-502_222-500dup	XM_005270349.1:c.222-503_222-500dup	XM_005270349.1:c.222-504_222-500dup	XM_005270349.1:c.222-505_222-500dup	XM_005270349.1:c.222-506_222-500dup	XM_005270349.1:c.222-507_222-500dup	XM_005270349.1:c.222-509_222-500dup	XM_005270349.1:c.222-510_222-500dup	XM_005270349.1:c.222-500_222-499insAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

52 SubSNP, 37 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95241113	Dec 05, 2013 (138)
2	HUMANGENOME_JCVI	ss98575596	Feb 13, 2009 (137)
3	PJP	ss294599606	May 09, 2011 (137)
4	EVA_GENOME_DK	ss1574011193	Apr 01, 2015 (144)
5	MCHAISSO	ss3065322633	Nov 08, 2017 (151)
6	URBANLAB	ss3646757648	Oct 11, 2018 (152)
7	ACPOP	ss3727408251	Jul 12, 2019 (153)
8	EVA	ss3826381699	Apr 25, 2020 (154)
9	GNOMAD	ss4000837755	Apr 25, 2021 (155)
10	GNOMAD	ss4000837756	Apr 25, 2021 (155)
11	GNOMAD	ss4000837757	Apr 25, 2021 (155)
12	GNOMAD	ss4000837758	Apr 25, 2021 (155)
13	GNOMAD	ss4000837759	Apr 25, 2021 (155)
14	GNOMAD	ss4000837760	Apr 25, 2021 (155)
15	GNOMAD	ss4000837761	Apr 25, 2021 (155)
16	GNOMAD	ss4000837762	Apr 25, 2021 (155)
17	GNOMAD	ss4000837763	Apr 25, 2021 (155)
18	GNOMAD	ss4000837764	Apr 25, 2021 (155)
19	GNOMAD	ss4000837765	Apr 25, 2021 (155)
20	GNOMAD	ss4000837766	Apr 25, 2021 (155)
21	GNOMAD	ss4000837767	Apr 25, 2021 (155)
22	GNOMAD	ss4000837768	Apr 25, 2021 (155)
23	GNOMAD	ss4000837769	Apr 25, 2021 (155)
24	GNOMAD	ss4000837770	Apr 25, 2021 (155)
25	GNOMAD	ss4000837771	Apr 25, 2021 (155)
26	GNOMAD	ss4000837772	Apr 25, 2021 (155)
27	GNOMAD	ss4000837773	Apr 25, 2021 (155)
28	GNOMAD	ss4000837774	Apr 25, 2021 (155)
29	GNOMAD	ss4000837775	Apr 25, 2021 (155)
30	GNOMAD	ss4000837776	Apr 25, 2021 (155)
31	GNOMAD	ss4000837777	Apr 25, 2021 (155)
32	TOPMED	ss4464407987	Apr 25, 2021 (155)
33	TOPMED	ss4464407988	Apr 25, 2021 (155)
34	TOPMED	ss4464407989	Apr 25, 2021 (155)
35	TOPMED	ss4464407990	Apr 25, 2021 (155)
36	TOMMO_GENOMICS	ss5145783267	Apr 25, 2021 (155)
37	TOMMO_GENOMICS	ss5145783268	Apr 25, 2021 (155)
38	TOMMO_GENOMICS	ss5145783269	Apr 25, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5243687374	Oct 12, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5243687375	Oct 12, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5243687376	Oct 12, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5243687377	Oct 12, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5243687378	Oct 12, 2022 (156)
44	HUGCELL_USP	ss5444603268	Oct 12, 2022 (156)
45	HUGCELL_USP	ss5444603269	Oct 12, 2022 (156)
46	HUGCELL_USP	ss5444603270	Oct 12, 2022 (156)
47	HUGCELL_USP	ss5444603271	Oct 12, 2022 (156)
48	SANFORD_IMAGENETICS	ss5626342475	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5671082626	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5671082627	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5671082629	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5671082630	Oct 12, 2022 (156)
53	The Danish reference pan genome	NC_000001.10 - 115111377	Apr 25, 2020 (154)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 23354873 (NC_000001.11:114568755::T 4243/76688) Row 23354874 (NC_000001.11:114568755::TT 163/76780) Row 23354875 (NC_000001.11:114568755::TTT 21/76804)...	-	Apr 25, 2021 (155)
77	Northern Sweden	NC_000001.10 - 115111377	Jul 12, 2019 (153)
78	8.3KJPN Submission ignored due to conflicting rows: Row 3752574 (NC_000001.10:115111376::T 304/16726) Row 3752575 (NC_000001.10:115111376:T: 159/16726) Row 3752576 (NC_000001.10:115111376:TTTTTTT: 2/16726)	-	Apr 25, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 3752574 (NC_000001.10:115111376::T 304/16726) Row 3752575 (NC_000001.10:115111376:T: 159/16726) Row 3752576 (NC_000001.10:115111376:TTTTTTT: 2/16726)	-	Apr 25, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 3752574 (NC_000001.10:115111376::T 304/16726) Row 3752575 (NC_000001.10:115111376:T: 159/16726) Row 3752576 (NC_000001.10:115111376:TTTTTTT: 2/16726)	-	Apr 25, 2021 (155)
81	14KJPN Submission ignored due to conflicting rows: Row 4919730 (NC_000001.11:114568755:T: 282/28242) Row 4919731 (NC_000001.11:114568755::T 522/28242) Row 4919733 (NC_000001.11:114568755:TTTTTTT: 3/28242)...	-	Oct 12, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 4919730 (NC_000001.11:114568755:T: 282/28242) Row 4919731 (NC_000001.11:114568755::T 522/28242) Row 4919733 (NC_000001.11:114568755:TTTTTTT: 3/28242)...	-	Oct 12, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 4919730 (NC_000001.11:114568755:T: 282/28242) Row 4919731 (NC_000001.11:114568755::T 522/28242) Row 4919733 (NC_000001.11:114568755:TTTTTTT: 3/28242)...	-	Oct 12, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 4919730 (NC_000001.11:114568755:T: 282/28242) Row 4919731 (NC_000001.11:114568755::T 522/28242) Row 4919733 (NC_000001.11:114568755:TTTTTTT: 3/28242)...	-	Oct 12, 2022 (156)
85	TopMed Submission ignored due to conflicting rows: Row 28014322 (NC_000001.11:114568755:TTTTTTTT: 30/264690) Row 28014323 (NC_000001.11:114568755:TTTTTTTTTT: 21/264690) Row 28014324 (NC_000001.11:114568755:TTTTTTTTTTTTTT: 5/264690)...	-	Apr 25, 2021 (155)
86	TopMed Submission ignored due to conflicting rows: Row 28014322 (NC_000001.11:114568755:TTTTTTTT: 30/264690) Row 28014323 (NC_000001.11:114568755:TTTTTTTTTT: 21/264690) Row 28014324 (NC_000001.11:114568755:TTTTTTTTTTTTTT: 5/264690)...	-	Apr 25, 2021 (155)
87	TopMed Submission ignored due to conflicting rows: Row 28014322 (NC_000001.11:114568755:TTTTTTTT: 30/264690) Row 28014323 (NC_000001.11:114568755:TTTTTTTTTT: 21/264690) Row 28014324 (NC_000001.11:114568755:TTTTTTTTTTTTTT: 5/264690)...	-	Apr 25, 2021 (155)
88	TopMed Submission ignored due to conflicting rows: Row 28014322 (NC_000001.11:114568755:TTTTTTTT: 30/264690) Row 28014323 (NC_000001.11:114568755:TTTTTTTTTT: 21/264690) Row 28014324 (NC_000001.11:114568755:TTTTTTTTTTTTTT: 5/264690)...	-	Apr 25, 2021 (155)
89	ALFA	NC_000001.11 - 114568756	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).

Associated ID	History Updated (Build)
rs71580635	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4464407990	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4000837777, ss4464407989, ss5671082630	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4000837776	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss5626342475	NC_000001.10:115111376:TTTTTTTTTTT… NC_000001.10:115111376:TTTTTTTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT
ss4000837775, ss5243687376, ss5444603271	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4000837774, ss5243687377	NC_000001.11:114568755:TTTTTTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4000837773, ss4464407988	NC_000001.11:114568755:TTTTTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4000837772	NC_000001.11:114568755:TTTTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4000837771, ss4464407987	NC_000001.11:114568755:TTTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5145783269	NC_000001.10:115111376:TTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4000837770, ss5243687378, ss5671082629	NC_000001.11:114568755:TTTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4000837769	NC_000001.11:114568755:TTTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4000837768	NC_000001.11:114568755:TTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837767	NC_000001.11:114568755:TT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
167667, ss1574011193, ss5145783268	NC_000001.10:115111376:T:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3646757648, ss4000837766, ss5243687375, ss5444603268, ss5671082626	NC_000001.11:114568755:T:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss98575596	NT_032977.9:85083294:T:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss95241113	NT_032977.9:85083317:T:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss294599606	NC_000001.9:114912900::T	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5145783267	NC_000001.10:115111376::T	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837755, ss5243687374, ss5444603269, ss5671082627	NC_000001.11:114568755::T	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3826381699	NC_000001.10:115111376::TT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3065322633, ss4000837756, ss5444603270	NC_000001.11:114568755::TT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837757	NC_000001.11:114568755::TTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837758	NC_000001.11:114568755::TTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
7540716919	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837759	NC_000001.11:114568755::TTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837760	NC_000001.11:114568755::TTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837761	NC_000001.11:114568755::TTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837762	NC_000001.11:114568755::TTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837763	NC_000001.11:114568755::TTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837764	NC_000001.11:114568755::TTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
693116, ss3727408251	NC_000001.10:115111376::TTTTTTTTTT… NC_000001.10:115111376::TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4000837765	NC_000001.11:114568755::TTTTTTTTTT… NC_000001.11:114568755::TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3087401371	NC_000001.11:114568755:TTTTT:	NC_000001.11:114568755:TTTTTTTTTTT… NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

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

No publications for rs67319421

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs67319421