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dbSNP Short Genetic Variations

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.

rs530430137

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:157200835 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000011 (3/264690, TOPMED)
T=0.000008 (2/251016, GnomAD_exome)
T=0.000014 (2/140286, GnomAD) (+ 4 more)
T=0.000008 (1/120568, ExAC)
T=0.00000 (0/10680, ALFA)
T=0.0002 (1/6404, 1000G_30x)
T=0.0002 (1/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ARID1B : Missense 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 C=1.00000 T=0.00000
European Sub 6962 C=1.0000 T=0.0000
African Sub 2294 C=1.0000 T=0.0000
African Others Sub 84 C=1.00 T=0.00
African American Sub 2210 C=1.0000 T=0.0000
Asian Sub 108 C=1.000 T=0.000
East Asian Sub 84 C=1.00 T=0.00
Other Asian Sub 24 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 94 C=1.00 T=0.00
Other Sub 466 C=1.000 T=0.000


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.999989 T=0.000011
gnomAD - Exomes Global Study-wide 251016 C=0.999992 T=0.000008
gnomAD - Exomes European Sub 135066 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 49002 C=0.99998 T=0.00002
gnomAD - Exomes American Sub 34564 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16204 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10058 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6122 C=0.9998 T=0.0002
gnomAD - Genomes Global Study-wide 140286 C=0.999986 T=0.000014
gnomAD - Genomes European Sub 75960 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42054 C=0.99998 T=0.00002
gnomAD - Genomes American Sub 13666 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 C=1.0000 T=0.0000
ExAC Global Study-wide 120568 C=0.999992 T=0.000008
ExAC Europe Sub 72736 C=1.00000 T=0.00000
ExAC Asian Sub 25136 C=0.99996 T=0.00004
ExAC American Sub 11544 C=1.00000 T=0.00000
ExAC African Sub 10254 C=1.00000 T=0.00000
ExAC Other Sub 898 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 10680 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9998 T=0.0002
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=0.9992 T=0.0008
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9998 T=0.0002
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=0.999 T=0.001
1000Genomes American Sub 694 C=1.000 T=0.000
Help

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 6 NC_000006.12:g.157200835C>A
GRCh38.p14 chr 6 NC_000006.12:g.157200835C>T
GRCh37.p13 chr 6 NC_000006.11:g.157521969C>A
GRCh37.p13 chr 6 NC_000006.11:g.157521969C>T
ARID1B RefSeqGene NG_066624.1:g.429810C>A
ARID1B RefSeqGene NG_066624.1:g.429810C>T
Gene: ARID1B, AT-rich interaction domain 1B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARID1B transcript variant 4 NM_001363725.2:c.2111C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 4 NP_001350654.1:p.Pro704Gln P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant 4 NM_001363725.2:c.2111C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 4 NP_001350654.1:p.Pro704Leu P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant 5 NM_001371656.1:c.4490C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 2 NP_001358585.1:p.Pro1497G…

NP_001358585.1:p.Pro1497Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant 5 NM_001371656.1:c.4490C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 2 NP_001358585.1:p.Pro1497L…

NP_001358585.1:p.Pro1497Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant 2 NM_001374820.1:c.4490C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 2 NP_001361749.1:p.Pro1497G…

NP_001361749.1:p.Pro1497Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant 2 NM_001374820.1:c.4490C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 2 NP_001361749.1:p.Pro1497L…

NP_001361749.1:p.Pro1497Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant 3 NM_001374828.1:c.4610C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 3 NP_001361757.1:p.Pro1537G…

NP_001361757.1:p.Pro1537Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant 3 NM_001374828.1:c.4610C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 3 NP_001361757.1:p.Pro1537L…

NP_001361757.1:p.Pro1537Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant 1 NM_017519.3:c.4451C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 1 NP_059989.3:p.Pro1484Gln P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant 1 NM_017519.3:c.4451C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform 1 NP_059989.3:p.Pro1484Leu P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X1 XM_011535984.3:c.4820C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X1 XP_011534286.3:p.Pro1607G…

XP_011534286.3:p.Pro1607Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X1 XM_011535984.3:c.4820C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X1 XP_011534286.3:p.Pro1607L…

XP_011534286.3:p.Pro1607Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X2 XM_047419130.1:c.4781C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X2 XP_047275086.1:p.Pro1594G…

XP_047275086.1:p.Pro1594Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X2 XM_047419130.1:c.4781C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X2 XP_047275086.1:p.Pro1594L…

XP_047275086.1:p.Pro1594Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X3 XM_047419131.1:c.4778C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X3 XP_047275087.1:p.Pro1593G…

XP_047275087.1:p.Pro1593Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X3 XM_047419131.1:c.4778C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X3 XP_047275087.1:p.Pro1593L…

XP_047275087.1:p.Pro1593Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X4 XM_047419132.1:c.4739C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X4 XP_047275088.1:p.Pro1580G…

XP_047275088.1:p.Pro1580Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X4 XM_047419132.1:c.4739C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X4 XP_047275088.1:p.Pro1580L…

XP_047275088.1:p.Pro1580Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X5 XM_017011104.2:c.4691C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X5 XP_016866593.2:p.Pro1564G…

XP_016866593.2:p.Pro1564Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X5 XM_017011104.2:c.4691C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X5 XP_016866593.2:p.Pro1564L…

XP_016866593.2:p.Pro1564Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X6 XM_017011105.3:c.4661C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X6 XP_016866594.2:p.Pro1554G…

XP_016866594.2:p.Pro1554Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X6 XM_017011105.3:c.4661C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X6 XP_016866594.2:p.Pro1554L…

XP_016866594.2:p.Pro1554Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X7 XM_047419133.1:c.4652C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X7 XP_047275089.1:p.Pro1551G…

XP_047275089.1:p.Pro1551Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X7 XM_047419133.1:c.4652C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X7 XP_047275089.1:p.Pro1551L…

XP_047275089.1:p.Pro1551Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X8 XM_047419134.1:c.4649C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X8 XP_047275090.1:p.Pro1550G…

XP_047275090.1:p.Pro1550Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X8 XM_047419134.1:c.4649C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X8 XP_047275090.1:p.Pro1550L…

XP_047275090.1:p.Pro1550Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X9 XM_047419135.1:c.4640C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X9 XP_047275091.1:p.Pro1547G…

XP_047275091.1:p.Pro1547Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X9 XM_047419135.1:c.4640C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X9 XP_047275091.1:p.Pro1547L…

XP_047275091.1:p.Pro1547Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X10 XM_047419136.1:c.4622C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X10 XP_047275092.1:p.Pro1541G…

XP_047275092.1:p.Pro1541Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X10 XM_047419136.1:c.4622C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X10 XP_047275092.1:p.Pro1541L…

XP_047275092.1:p.Pro1541Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X11 XM_047419137.1:c.4619C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X11 XP_047275093.1:p.Pro1540G…

XP_047275093.1:p.Pro1540Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X11 XM_047419137.1:c.4619C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X11 XP_047275093.1:p.Pro1540L…

XP_047275093.1:p.Pro1540Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X12 XM_047419138.1:c.4601C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X12 XP_047275094.1:p.Pro1534G…

XP_047275094.1:p.Pro1534Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X12 XM_047419138.1:c.4601C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X12 XP_047275094.1:p.Pro1534L…

XP_047275094.1:p.Pro1534Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X13 XM_047419140.1:c.4580C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X13 XP_047275096.1:p.Pro1527G…

XP_047275096.1:p.Pro1527Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X13 XM_047419140.1:c.4580C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X13 XP_047275096.1:p.Pro1527L…

XP_047275096.1:p.Pro1527Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X14 XM_047419141.1:c.4559C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X14 XP_047275097.1:p.Pro1520G…

XP_047275097.1:p.Pro1520Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X14 XM_047419141.1:c.4559C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X14 XP_047275097.1:p.Pro1520L…

XP_047275097.1:p.Pro1520Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X15 XM_017011106.3:c.4532C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X15 XP_016866595.2:p.Pro1511G…

XP_016866595.2:p.Pro1511Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X15 XM_017011106.3:c.4532C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X15 XP_016866595.2:p.Pro1511L…

XP_016866595.2:p.Pro1511Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X16 XM_047419142.1:c.4520C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X16 XP_047275098.1:p.Pro1507G…

XP_047275098.1:p.Pro1507Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X16 XM_047419142.1:c.4520C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X16 XP_047275098.1:p.Pro1507L…

XP_047275098.1:p.Pro1507Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X17 XM_017011107.3:c.4511C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X17 XP_016866596.2:p.Pro1504G…

XP_016866596.2:p.Pro1504Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X17 XM_017011107.3:c.4511C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X17 XP_016866596.2:p.Pro1504L…

XP_016866596.2:p.Pro1504Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X18 XM_047419143.1:c.4493C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X18 XP_047275099.1:p.Pro1498G…

XP_047275099.1:p.Pro1498Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X18 XM_047419143.1:c.4493C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X18 XP_047275099.1:p.Pro1498L…

XP_047275099.1:p.Pro1498Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X19 XM_047419144.1:c.4472C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X19 XP_047275100.1:p.Pro1491G…

XP_047275100.1:p.Pro1491Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X19 XM_047419144.1:c.4472C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X19 XP_047275100.1:p.Pro1491L…

XP_047275100.1:p.Pro1491Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X20 XM_047419145.1:c.4469C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X20 XP_047275101.1:p.Pro1490G…

XP_047275101.1:p.Pro1490Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X20 XM_047419145.1:c.4469C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X20 XP_047275101.1:p.Pro1490L…

XP_047275101.1:p.Pro1490Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X21 XM_047419146.1:c.4442C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X21 XP_047275102.1:p.Pro1481G…

XP_047275102.1:p.Pro1481Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X21 XM_047419146.1:c.4442C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X21 XP_047275102.1:p.Pro1481L…

XP_047275102.1:p.Pro1481Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X22 XM_047419147.1:c.4430C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X22 XP_047275103.1:p.Pro1477G…

XP_047275103.1:p.Pro1477Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X22 XM_047419147.1:c.4430C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X22 XP_047275103.1:p.Pro1477L…

XP_047275103.1:p.Pro1477Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X23 XM_047419148.1:c.4400C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X23 XP_047275104.1:p.Pro1467G…

XP_047275104.1:p.Pro1467Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X23 XM_047419148.1:c.4400C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X23 XP_047275104.1:p.Pro1467L…

XP_047275104.1:p.Pro1467Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X24 XM_047419149.1:c.4361C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X24 XP_047275105.1:p.Pro1454G…

XP_047275105.1:p.Pro1454Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X24 XM_047419149.1:c.4361C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X24 XP_047275105.1:p.Pro1454L…

XP_047275105.1:p.Pro1454Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X25 XM_047419150.1:c.4352C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X25 XP_047275106.1:p.Pro1451G…

XP_047275106.1:p.Pro1451Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X25 XM_047419150.1:c.4352C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X25 XP_047275106.1:p.Pro1451L…

XP_047275106.1:p.Pro1451Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X26 XM_047419151.1:c.4310C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X26 XP_047275107.1:p.Pro1437G…

XP_047275107.1:p.Pro1437Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X26 XM_047419151.1:c.4310C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X26 XP_047275107.1:p.Pro1437L…

XP_047275107.1:p.Pro1437Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X27 XM_047419152.1:c.4271C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X27 XP_047275108.1:p.Pro1424G…

XP_047275108.1:p.Pro1424Gln

P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X27 XM_047419152.1:c.4271C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X27 XP_047275108.1:p.Pro1424L…

XP_047275108.1:p.Pro1424Leu

P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X28 XM_047419153.1:c.2624C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X28 XP_047275109.1:p.Pro875Gln P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X28 XM_047419153.1:c.2624C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X28 XP_047275109.1:p.Pro875Leu P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X29 XM_047419154.1:c.2336C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X29 XP_047275110.1:p.Pro779Gln P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X29 XM_047419154.1:c.2336C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X29 XP_047275110.1:p.Pro779Leu P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X30 XM_047419155.1:c.4723C>A R [CGG] > R [AGG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X30 XP_047275111.1:p.Arg1575= R (Arg) > R (Arg) Synonymous Variant
ARID1B transcript variant X30 XM_047419155.1:c.4723C>T R [CGG] > W [TGG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X30 XP_047275111.1:p.Arg1575T…

XP_047275111.1:p.Arg1575Trp

R (Arg) > W (Trp) Missense Variant
ARID1B transcript variant X31 XM_011535988.4:c.1502C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X31 XP_011534290.1:p.Pro501Gln P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X31 XM_011535988.4:c.1502C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X31 XP_011534290.1:p.Pro501Leu P (Pro) > L (Leu) Missense Variant
ARID1B transcript variant X32 XM_047419156.1:c.1343C>A P [CCG] > Q [CAG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X32 XP_047275112.1:p.Pro448Gln P (Pro) > Q (Gln) Missense Variant
ARID1B transcript variant X32 XM_047419156.1:c.1343C>T P [CCG] > L [CTG] Coding Sequence Variant
AT-rich interactive domain-containing protein 1B isoform X32 XP_047275112.1:p.Pro448Leu P (Pro) > L (Leu) Missense Variant
Help

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.

Allele: T (allele ID: 579246 )
ClinVar Accession Disease Names Clinical Significance
RCV000717764.1 History of neurodevelopmental disorder Uncertain-Significance
RCV001249527.1 Intellectual disability Uncertain-Significance
Help

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 C= A T
GRCh38.p14 chr 6 NC_000006.12:g.157200835= NC_000006.12:g.157200835C>A NC_000006.12:g.157200835C>T
GRCh37.p13 chr 6 NC_000006.11:g.157521969= NC_000006.11:g.157521969C>A NC_000006.11:g.157521969C>T
ARID1B RefSeqGene NG_066624.1:g.429810= NG_066624.1:g.429810C>A NG_066624.1:g.429810C>T
ARID1B transcript variant 1 NM_017519.3:c.4451= NM_017519.3:c.4451C>A NM_017519.3:c.4451C>T
ARID1B transcript variant 1 NM_017519.2:c.4202= NM_017519.2:c.4202C>A NM_017519.2:c.4202C>T
ARID1B transcript variant 4 NM_001363725.2:c.2111= NM_001363725.2:c.2111C>A NM_001363725.2:c.2111C>T
ARID1B transcript variant 4 NM_001363725.1:c.2111= NM_001363725.1:c.2111C>A NM_001363725.1:c.2111C>T
ARID1B transcript variant 5 NM_001371656.1:c.4490= NM_001371656.1:c.4490C>A NM_001371656.1:c.4490C>T
ARID1B transcript variant 3 NM_001374828.1:c.4610= NM_001374828.1:c.4610C>A NM_001374828.1:c.4610C>T
ARID1B transcript variant 2 NM_001374820.1:c.4490= NM_001374820.1:c.4490C>A NM_001374820.1:c.4490C>T
ARID1B transcript variant X31 XM_011535988.4:c.1502= XM_011535988.4:c.1502C>A XM_011535988.4:c.1502C>T
ARID1B transcript variant X9 XM_011535988.3:c.1502= XM_011535988.3:c.1502C>A XM_011535988.3:c.1502C>T
ARID1B transcript variant X10 XM_011535988.2:c.1502= XM_011535988.2:c.1502C>A XM_011535988.2:c.1502C>T
ARID1B transcript variant X6 XM_011535988.1:c.1502= XM_011535988.1:c.1502C>A XM_011535988.1:c.1502C>T
ARID1B transcript variant X1 XM_011535984.3:c.4820= XM_011535984.3:c.4820C>A XM_011535984.3:c.4820C>T
ARID1B transcript variant X1 XM_011535984.2:c.4571= XM_011535984.2:c.4571C>A XM_011535984.2:c.4571C>T
ARID1B transcript variant X2 XM_011535984.1:c.3440= XM_011535984.1:c.3440C>A XM_011535984.1:c.3440C>T
ARID1B transcript variant X6 XM_017011105.3:c.4661= XM_017011105.3:c.4661C>A XM_017011105.3:c.4661C>T
ARID1B transcript variant X4 XM_017011105.2:c.4412= XM_017011105.2:c.4412C>A XM_017011105.2:c.4412C>T
ARID1B transcript variant X4 XM_017011105.1:c.4412= XM_017011105.1:c.4412C>A XM_017011105.1:c.4412C>T
ARID1B transcript variant X15 XM_017011106.3:c.4532= XM_017011106.3:c.4532C>A XM_017011106.3:c.4532C>T
ARID1B transcript variant X5 XM_017011106.2:c.4283= XM_017011106.2:c.4283C>A XM_017011106.2:c.4283C>T
ARID1B transcript variant X6 XM_017011106.1:c.4283= XM_017011106.1:c.4283C>A XM_017011106.1:c.4283C>T
ARID1B transcript variant X17 XM_017011107.3:c.4511= XM_017011107.3:c.4511C>A XM_017011107.3:c.4511C>T
ARID1B transcript variant X6 XM_017011107.2:c.4262= XM_017011107.2:c.4262C>A XM_017011107.2:c.4262C>T
ARID1B transcript variant X7 XM_017011107.1:c.4262= XM_017011107.1:c.4262C>A XM_017011107.1:c.4262C>T
ARID1B transcript variant 2 NM_020732.3:c.4241= NM_020732.3:c.4241C>A NM_020732.3:c.4241C>T
ARID1B transcript variant X5 XM_017011104.2:c.4691= XM_017011104.2:c.4691C>A XM_017011104.2:c.4691C>T
ARID1B transcript variant X3 XM_017011104.1:c.4442= XM_017011104.1:c.4442C>A XM_017011104.1:c.4442C>T
ARID1B transcript variant 3 NM_175863.2:c.4028= NM_175863.2:c.4028C>A NM_175863.2:c.4028C>T
ARID1B transcript variant X2 XM_047419130.1:c.4781= XM_047419130.1:c.4781C>A XM_047419130.1:c.4781C>T
ARID1B transcript variant X3 XM_047419131.1:c.4778= XM_047419131.1:c.4778C>A XM_047419131.1:c.4778C>T
ARID1B transcript variant X4 XM_047419132.1:c.4739= XM_047419132.1:c.4739C>A XM_047419132.1:c.4739C>T
ARID1B transcript variant X7 XM_047419133.1:c.4652= XM_047419133.1:c.4652C>A XM_047419133.1:c.4652C>T
ARID1B transcript variant X8 XM_047419134.1:c.4649= XM_047419134.1:c.4649C>A XM_047419134.1:c.4649C>T
ARID1B transcript variant X9 XM_047419135.1:c.4640= XM_047419135.1:c.4640C>A XM_047419135.1:c.4640C>T
ARID1B transcript variant X10 XM_047419136.1:c.4622= XM_047419136.1:c.4622C>A XM_047419136.1:c.4622C>T
ARID1B transcript variant X11 XM_047419137.1:c.4619= XM_047419137.1:c.4619C>A XM_047419137.1:c.4619C>T
ARID1B transcript variant X12 XM_047419138.1:c.4601= XM_047419138.1:c.4601C>A XM_047419138.1:c.4601C>T
ARID1B transcript variant X13 XM_047419140.1:c.4580= XM_047419140.1:c.4580C>A XM_047419140.1:c.4580C>T
ARID1B transcript variant X14 XM_047419141.1:c.4559= XM_047419141.1:c.4559C>A XM_047419141.1:c.4559C>T
ARID1B transcript variant X16 XM_047419142.1:c.4520= XM_047419142.1:c.4520C>A XM_047419142.1:c.4520C>T
ARID1B transcript variant X18 XM_047419143.1:c.4493= XM_047419143.1:c.4493C>A XM_047419143.1:c.4493C>T
ARID1B transcript variant X19 XM_047419144.1:c.4472= XM_047419144.1:c.4472C>A XM_047419144.1:c.4472C>T
ARID1B transcript variant X20 XM_047419145.1:c.4469= XM_047419145.1:c.4469C>A XM_047419145.1:c.4469C>T
ARID1B transcript variant X21 XM_047419146.1:c.4442= XM_047419146.1:c.4442C>A XM_047419146.1:c.4442C>T
ARID1B transcript variant X22 XM_047419147.1:c.4430= XM_047419147.1:c.4430C>A XM_047419147.1:c.4430C>T
ARID1B transcript variant X23 XM_047419148.1:c.4400= XM_047419148.1:c.4400C>A XM_047419148.1:c.4400C>T
ARID1B transcript variant X24 XM_047419149.1:c.4361= XM_047419149.1:c.4361C>A XM_047419149.1:c.4361C>T
ARID1B transcript variant X25 XM_047419150.1:c.4352= XM_047419150.1:c.4352C>A XM_047419150.1:c.4352C>T
ARID1B transcript variant X26 XM_047419151.1:c.4310= XM_047419151.1:c.4310C>A XM_047419151.1:c.4310C>T
ARID1B transcript variant X27 XM_047419152.1:c.4271= XM_047419152.1:c.4271C>A XM_047419152.1:c.4271C>T
ARID1B transcript variant 3 NM_001346813.1:c.4361= NM_001346813.1:c.4361C>A NM_001346813.1:c.4361C>T
ARID1B transcript variant X28 XM_047419153.1:c.2624= XM_047419153.1:c.2624C>A XM_047419153.1:c.2624C>T
ARID1B transcript variant X29 XM_047419154.1:c.2336= XM_047419154.1:c.2336C>A XM_047419154.1:c.2336C>T
ARID1B transcript variant X32 XM_047419156.1:c.1343= XM_047419156.1:c.1343C>A XM_047419156.1:c.1343C>T
ELD/OSA1 transcript NM_175863.1:c.3365= NM_175863.1:c.3365C>A NM_175863.1:c.3365C>T
ARID1B transcript variant X30 XM_047419155.1:c.4723= XM_047419155.1:c.4723C>A XM_047419155.1:c.4723C>T
AT-rich interactive domain-containing protein 1B isoform 1 NP_059989.3:p.Pro1484= NP_059989.3:p.Pro1484Gln NP_059989.3:p.Pro1484Leu
AT-rich interactive domain-containing protein 1B isoform 4 NP_001350654.1:p.Pro704= NP_001350654.1:p.Pro704Gln NP_001350654.1:p.Pro704Leu
AT-rich interactive domain-containing protein 1B isoform 2 NP_001358585.1:p.Pro1497= NP_001358585.1:p.Pro1497Gln NP_001358585.1:p.Pro1497Leu
AT-rich interactive domain-containing protein 1B isoform 3 NP_001361757.1:p.Pro1537= NP_001361757.1:p.Pro1537Gln NP_001361757.1:p.Pro1537Leu
AT-rich interactive domain-containing protein 1B isoform 2 NP_001361749.1:p.Pro1497= NP_001361749.1:p.Pro1497Gln NP_001361749.1:p.Pro1497Leu
AT-rich interactive domain-containing protein 1B isoform X31 XP_011534290.1:p.Pro501= XP_011534290.1:p.Pro501Gln XP_011534290.1:p.Pro501Leu
AT-rich interactive domain-containing protein 1B isoform X1 XP_011534286.3:p.Pro1607= XP_011534286.3:p.Pro1607Gln XP_011534286.3:p.Pro1607Leu
AT-rich interactive domain-containing protein 1B isoform X6 XP_016866594.2:p.Pro1554= XP_016866594.2:p.Pro1554Gln XP_016866594.2:p.Pro1554Leu
AT-rich interactive domain-containing protein 1B isoform X15 XP_016866595.2:p.Pro1511= XP_016866595.2:p.Pro1511Gln XP_016866595.2:p.Pro1511Leu
AT-rich interactive domain-containing protein 1B isoform X17 XP_016866596.2:p.Pro1504= XP_016866596.2:p.Pro1504Gln XP_016866596.2:p.Pro1504Leu
AT-rich interactive domain-containing protein 1B isoform X5 XP_016866593.2:p.Pro1564= XP_016866593.2:p.Pro1564Gln XP_016866593.2:p.Pro1564Leu
AT-rich interactive domain-containing protein 1B isoform X2 XP_047275086.1:p.Pro1594= XP_047275086.1:p.Pro1594Gln XP_047275086.1:p.Pro1594Leu
AT-rich interactive domain-containing protein 1B isoform X3 XP_047275087.1:p.Pro1593= XP_047275087.1:p.Pro1593Gln XP_047275087.1:p.Pro1593Leu
AT-rich interactive domain-containing protein 1B isoform X4 XP_047275088.1:p.Pro1580= XP_047275088.1:p.Pro1580Gln XP_047275088.1:p.Pro1580Leu
AT-rich interactive domain-containing protein 1B isoform X7 XP_047275089.1:p.Pro1551= XP_047275089.1:p.Pro1551Gln XP_047275089.1:p.Pro1551Leu
AT-rich interactive domain-containing protein 1B isoform X8 XP_047275090.1:p.Pro1550= XP_047275090.1:p.Pro1550Gln XP_047275090.1:p.Pro1550Leu
AT-rich interactive domain-containing protein 1B isoform X9 XP_047275091.1:p.Pro1547= XP_047275091.1:p.Pro1547Gln XP_047275091.1:p.Pro1547Leu
AT-rich interactive domain-containing protein 1B isoform X10 XP_047275092.1:p.Pro1541= XP_047275092.1:p.Pro1541Gln XP_047275092.1:p.Pro1541Leu
AT-rich interactive domain-containing protein 1B isoform X11 XP_047275093.1:p.Pro1540= XP_047275093.1:p.Pro1540Gln XP_047275093.1:p.Pro1540Leu
AT-rich interactive domain-containing protein 1B isoform X12 XP_047275094.1:p.Pro1534= XP_047275094.1:p.Pro1534Gln XP_047275094.1:p.Pro1534Leu
AT-rich interactive domain-containing protein 1B isoform X13 XP_047275096.1:p.Pro1527= XP_047275096.1:p.Pro1527Gln XP_047275096.1:p.Pro1527Leu
AT-rich interactive domain-containing protein 1B isoform X14 XP_047275097.1:p.Pro1520= XP_047275097.1:p.Pro1520Gln XP_047275097.1:p.Pro1520Leu
AT-rich interactive domain-containing protein 1B isoform X16 XP_047275098.1:p.Pro1507= XP_047275098.1:p.Pro1507Gln XP_047275098.1:p.Pro1507Leu
AT-rich interactive domain-containing protein 1B isoform X18 XP_047275099.1:p.Pro1498= XP_047275099.1:p.Pro1498Gln XP_047275099.1:p.Pro1498Leu
AT-rich interactive domain-containing protein 1B isoform X19 XP_047275100.1:p.Pro1491= XP_047275100.1:p.Pro1491Gln XP_047275100.1:p.Pro1491Leu
AT-rich interactive domain-containing protein 1B isoform X20 XP_047275101.1:p.Pro1490= XP_047275101.1:p.Pro1490Gln XP_047275101.1:p.Pro1490Leu
AT-rich interactive domain-containing protein 1B isoform X21 XP_047275102.1:p.Pro1481= XP_047275102.1:p.Pro1481Gln XP_047275102.1:p.Pro1481Leu
AT-rich interactive domain-containing protein 1B isoform X22 XP_047275103.1:p.Pro1477= XP_047275103.1:p.Pro1477Gln XP_047275103.1:p.Pro1477Leu
AT-rich interactive domain-containing protein 1B isoform X23 XP_047275104.1:p.Pro1467= XP_047275104.1:p.Pro1467Gln XP_047275104.1:p.Pro1467Leu
AT-rich interactive domain-containing protein 1B isoform X24 XP_047275105.1:p.Pro1454= XP_047275105.1:p.Pro1454Gln XP_047275105.1:p.Pro1454Leu
AT-rich interactive domain-containing protein 1B isoform X25 XP_047275106.1:p.Pro1451= XP_047275106.1:p.Pro1451Gln XP_047275106.1:p.Pro1451Leu
AT-rich interactive domain-containing protein 1B isoform X26 XP_047275107.1:p.Pro1437= XP_047275107.1:p.Pro1437Gln XP_047275107.1:p.Pro1437Leu
AT-rich interactive domain-containing protein 1B isoform X27 XP_047275108.1:p.Pro1424= XP_047275108.1:p.Pro1424Gln XP_047275108.1:p.Pro1424Leu
AT-rich interactive domain-containing protein 1B isoform X28 XP_047275109.1:p.Pro875= XP_047275109.1:p.Pro875Gln XP_047275109.1:p.Pro875Leu
AT-rich interactive domain-containing protein 1B isoform X29 XP_047275110.1:p.Pro779= XP_047275110.1:p.Pro779Gln XP_047275110.1:p.Pro779Leu
AT-rich interactive domain-containing protein 1B isoform X32 XP_047275112.1:p.Pro448= XP_047275112.1:p.Pro448Gln XP_047275112.1:p.Pro448Leu
AT-rich interactive domain-containing protein 1B isoform X30 XP_047275111.1:p.Arg1575= XP_047275111.1:p.Arg1575= XP_047275111.1:p.Arg1575Trp
AT-rich interactive domain-containing protein 1B isoform 1 NP_059989.2:p.Pro1401= NP_059989.2:p.Pro1401Gln NP_059989.2:p.Pro1401Leu
AT-rich interactive domain-containing protein 1B isoform 2 NP_065783.3:p.Pro1414= NP_065783.3:p.Pro1414Gln NP_065783.3:p.Pro1414Leu
Help

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#.

9 SubSNP, 7 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1323053266 Aug 21, 2014 (142)
2 EVA_EXAC ss1688560063 Apr 01, 2015 (144)
3 GNOMAD ss2736160971 Nov 08, 2017 (151)
4 GNOMAD ss4154783074 Apr 26, 2021 (155)
5 TOPMED ss4728533374 Apr 26, 2021 (155)
6 EVA ss5370258671 Oct 14, 2022 (156)
7 1000G_HIGH_COVERAGE ss5558320044 Oct 14, 2022 (156)
8 EVA ss5886746179 Oct 14, 2022 (156)
9 EVA ss5935841922 Oct 14, 2022 (156)
10 1000Genomes NC_000006.11 - 157521969 Oct 12, 2018 (152)
11 1000Genomes_30x NC_000006.12 - 157200835 Oct 14, 2022 (156)
12 ExAC NC_000006.11 - 157521969 Oct 12, 2018 (152)
13 gnomAD - Genomes NC_000006.12 - 157200835 Apr 26, 2021 (155)
14 gnomAD - Exomes NC_000006.11 - 157521969 Jul 13, 2019 (153)
15 TopMed NC_000006.12 - 157200835 Apr 26, 2021 (155)
16 ALFA NC_000006.12 - 157200835 Apr 26, 2021 (155)
17 ClinVar RCV000717764.1 Jul 13, 2019 (153)
18 ClinVar RCV001249527.1 Apr 26, 2021 (155)
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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
ss5935841922 NC_000006.11:157521968:C:A NC_000006.12:157200834:C:A
34951920, 8612161, 5315141, ss1323053266, ss1688560063, ss2736160971, ss5370258671, ss5935841922 NC_000006.11:157521968:C:T NC_000006.12:157200834:C:T (self)
RCV000717764.1, RCV001249527.1, 45845979, 246745019, 565910932, 8490766578, ss4154783074, ss4728533374, ss5558320044, ss5886746179 NC_000006.12:157200834:C:T NC_000006.12:157200834:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs530430137

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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
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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.

Software version is: 2.0.1.post761+d5e8e07