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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs34271972

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:144513458 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.002255 (597/264690, TOPMED)
A=0.000457 (111/243068, GnomAD_exome)
A=0.001982 (278/140288, GnomAD) (+ 6 more)
A=0.000531 (61/114832, ExAC)
A=0.00062 (38/61188, ALFA)
A=0.00182 (23/12662, GO-ESP)
A=0.0019 (12/6404, 1000G_30x)
A=0.0018 (9/5008, 1000G)
A=0.005 (1/216, Qatari)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RECQL4 : 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 77254 G=0.99908 A=0.00092
European Sub 53738 G=0.99996 A=0.00004
African Sub 10262 G=0.99357 A=0.00643
African Others Sub 364 G=0.997 A=0.003
African American Sub 9898 G=0.9934 A=0.0066
Asian Sub 490 G=1.000 A=0.000
East Asian Sub 396 G=1.000 A=0.000
Other Asian Sub 94 G=1.00 A=0.00
Latin American 1 Sub 866 G=0.999 A=0.001
Latin American 2 Sub 854 G=1.000 A=0.000
South Asian Sub 158 G=1.000 A=0.000
Other Sub 10886 G=0.99982 A=0.00018


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 G=0.997745 A=0.002255
gnomAD - Exomes Global Study-wide 243068 G=0.999543 A=0.000457
gnomAD - Exomes European Sub 129382 G=0.999969 A=0.000031
gnomAD - Exomes Asian Sub 48438 G=0.99994 A=0.00006
gnomAD - Exomes American Sub 34408 G=0.99974 A=0.00026
gnomAD - Exomes African Sub 14978 G=0.99366 A=0.00634
gnomAD - Exomes Ashkenazi Jewish Sub 9908 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 5954 G=1.0000 A=0.0000
gnomAD - Genomes Global Study-wide 140288 G=0.998018 A=0.001982
gnomAD - Genomes European Sub 75962 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42048 G=0.99365 A=0.00635
gnomAD - Genomes American Sub 13670 G=0.99934 A=0.00066
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2150 G=0.9991 A=0.0009
ExAC Global Study-wide 114832 G=0.999469 A=0.000531
ExAC Europe Sub 69306 G=0.99999 A=0.00001
ExAC Asian Sub 24710 G=0.99992 A=0.00008
ExAC American Sub 11272 G=0.99991 A=0.00009
ExAC African Sub 8704 G=0.9935 A=0.0065
ExAC Other Sub 840 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 61188 G=0.99938 A=0.00062
Allele Frequency Aggregator European Sub 43854 G=0.99995 A=0.00005
Allele Frequency Aggregator Other Sub 9498 G=0.9999 A=0.0001
Allele Frequency Aggregator African Sub 5468 G=0.9938 A=0.0062
Allele Frequency Aggregator Latin American 1 Sub 866 G=0.999 A=0.001
Allele Frequency Aggregator Latin American 2 Sub 854 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 490 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 158 G=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 12662 G=0.99818 A=0.00182
GO Exome Sequencing Project European American Sub 8438 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4224 G=0.9946 A=0.0054
1000Genomes_30x Global Study-wide 6404 G=0.9981 A=0.0019
1000Genomes_30x African Sub 1786 G=0.9933 A=0.0067
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9982 A=0.0018
1000Genomes African Sub 1322 G=0.9932 A=0.0068
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
Qatari Global Study-wide 216 G=0.995 A=0.005
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 8 NC_000008.11:g.144513458G>A
GRCh37.p13 chr 8 NC_000008.10:g.145738842G>A
LRRC14 RefSeqGene NG_033083.2:g.468G>A
LRRC14 RefSeqGene NG_033083.1:g.494G>A
RECQL4 RefSeqGene (LRG_277) NG_016430.2:g.9369C>T
Gene: RECQL4, RecQ like helicase 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RECQL4 transcript variant 1 NM_004260.4:c.2223C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform 1 NP_004251.4:p.Ala741= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X1 XM_047422437.1:c.2223C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X1 XP_047278393.1:p.Ala741= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X1 XM_047422438.1:c.2127C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X1 XP_047278394.1:p.Ala709= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X3 XM_047422439.1:c.2127C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X3 XP_047278395.1:p.Ala709= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X2 XM_047422440.1:c.2223C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X2 XP_047278396.1:p.Ala741= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X5 XM_011517384.4:c.2223C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X5 XP_011515686.1:p.Ala741= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X3 XM_047422441.1:c.2223C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X3 XP_047278397.1:p.Ala741= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X7 XM_047422442.1:c.2127C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X7 XP_047278398.1:p.Ala709= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X4 XM_047422443.1:c.2223C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X4 XP_047278399.1:p.Ala741= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X5 XM_047422444.1:c.2223C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X5 XP_047278400.1:p.Ala741= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X10 XM_047422445.1:c.1086C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X10 XP_047278401.1:p.Ala362= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X11 XM_047422446.1:c.1086C>T A [GCC] > A [GCT] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X11 XP_047278402.1:p.Ala362= A (Ala) > A (Ala) Synonymous Variant
RECQL4 transcript variant X12 XM_047422447.1:c.2081C>T P [CCG] > L [CTG] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X12 XP_047278403.1:p.Pro694Leu P (Pro) > L (Leu) Missense Variant
RECQL4 transcript variant X6 XM_047422448.1:c.2081C>T P [CCG] > L [CTG] Coding Sequence Variant
ATP-dependent DNA helicase Q4 isoform X6 XP_047278404.1:p.Pro694Leu 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: A (allele ID: 240284 )
ClinVar Accession Disease Names Clinical Significance
RCV000227653.10 Baller-Gerold syndrome Benign
RCV001582778.4 not provided Likely-Benign
RCV001818607.3 not specified Likely-Benign
RCV002255138.1 Hereditary cancer-predisposing syndrome Likely-Benign
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 G= A
GRCh38.p14 chr 8 NC_000008.11:g.144513458= NC_000008.11:g.144513458G>A
GRCh37.p13 chr 8 NC_000008.10:g.145738842= NC_000008.10:g.145738842G>A
LRRC14 RefSeqGene NG_033083.2:g.468= NG_033083.2:g.468G>A
LRRC14 RefSeqGene NG_033083.1:g.494= NG_033083.1:g.494G>A
RECQL4 RefSeqGene (LRG_277) NG_016430.2:g.9369= NG_016430.2:g.9369C>T
RECQL4 transcript variant 1 NM_004260.4:c.2223= NM_004260.4:c.2223C>T
RECQL4 transcript NM_004260.3:c.2223= NM_004260.3:c.2223C>T
RECQL4 transcript variant X5 XM_011517384.4:c.2223= XM_011517384.4:c.2223C>T
RECQL4 transcript variant X11 XM_011517384.3:c.2223= XM_011517384.3:c.2223C>T
RECQL4 transcript variant X11 XM_011517384.2:c.2223= XM_011517384.2:c.2223C>T
RECQL4 transcript variant X5 XM_011517384.1:c.2223= XM_011517384.1:c.2223C>T
RECQL4 transcript variant X1 XM_047422437.1:c.2223= XM_047422437.1:c.2223C>T
RECQL4 transcript variant X1 XM_047422438.1:c.2127= XM_047422438.1:c.2127C>T
RECQL4 transcript variant X3 XM_047422439.1:c.2127= XM_047422439.1:c.2127C>T
RECQL4 transcript variant X2 XM_047422440.1:c.2223= XM_047422440.1:c.2223C>T
RECQL4 transcript variant X7 XM_047422442.1:c.2127= XM_047422442.1:c.2127C>T
RECQL4 transcript variant X3 XM_047422441.1:c.2223= XM_047422441.1:c.2223C>T
RECQL4 transcript variant X4 XM_047422443.1:c.2223= XM_047422443.1:c.2223C>T
RECQL4 transcript variant X5 XM_047422444.1:c.2223= XM_047422444.1:c.2223C>T
RECQL4 transcript variant X10 XM_047422445.1:c.1086= XM_047422445.1:c.1086C>T
RECQL4 transcript variant X11 XM_047422446.1:c.1086= XM_047422446.1:c.1086C>T
RECQL4 transcript variant X12 XM_047422447.1:c.2081= XM_047422447.1:c.2081C>T
RECQL4 transcript variant X6 XM_047422448.1:c.2081= XM_047422448.1:c.2081C>T
ATP-dependent DNA helicase Q4 isoform 1 NP_004251.4:p.Ala741= NP_004251.4:p.Ala741=
ATP-dependent DNA helicase Q4 isoform X5 XP_011515686.1:p.Ala741= XP_011515686.1:p.Ala741=
ATP-dependent DNA helicase Q4 isoform X1 XP_047278393.1:p.Ala741= XP_047278393.1:p.Ala741=
ATP-dependent DNA helicase Q4 isoform X1 XP_047278394.1:p.Ala709= XP_047278394.1:p.Ala709=
ATP-dependent DNA helicase Q4 isoform X3 XP_047278395.1:p.Ala709= XP_047278395.1:p.Ala709=
ATP-dependent DNA helicase Q4 isoform X2 XP_047278396.1:p.Ala741= XP_047278396.1:p.Ala741=
ATP-dependent DNA helicase Q4 isoform X7 XP_047278398.1:p.Ala709= XP_047278398.1:p.Ala709=
ATP-dependent DNA helicase Q4 isoform X3 XP_047278397.1:p.Ala741= XP_047278397.1:p.Ala741=
ATP-dependent DNA helicase Q4 isoform X4 XP_047278399.1:p.Ala741= XP_047278399.1:p.Ala741=
ATP-dependent DNA helicase Q4 isoform X5 XP_047278400.1:p.Ala741= XP_047278400.1:p.Ala741=
ATP-dependent DNA helicase Q4 isoform X10 XP_047278401.1:p.Ala362= XP_047278401.1:p.Ala362=
ATP-dependent DNA helicase Q4 isoform X11 XP_047278402.1:p.Ala362= XP_047278402.1:p.Ala362=
ATP-dependent DNA helicase Q4 isoform X12 XP_047278403.1:p.Pro694= XP_047278403.1:p.Pro694Leu
ATP-dependent DNA helicase Q4 isoform X6 XP_047278404.1:p.Pro694= XP_047278404.1:p.Pro694Leu
ATP-dependent DNA helicase Q4 NP_004251.3:p.Ala741= NP_004251.3:p.Ala741=
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#.

20 SubSNP, 9 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss48298149 Mar 13, 2006 (126)
2 ILLUMINA ss160620904 Dec 01, 2009 (131)
3 ILLUMINA ss481698249 Sep 08, 2015 (146)
4 NHLBI-ESP ss712867792 Apr 25, 2013 (138)
5 1000GENOMES ss1332451673 Aug 21, 2014 (142)
6 EVA_EXAC ss1689384435 Apr 01, 2015 (144)
7 WEILL_CORNELL_DGM ss1929472589 Feb 12, 2016 (147)
8 HUMAN_LONGEVITY ss2308491849 Dec 20, 2016 (150)
9 GNOMAD ss2737452048 Nov 08, 2017 (151)
10 GNOMAD ss2748138612 Nov 08, 2017 (151)
11 GNOMAD ss2874184417 Nov 08, 2017 (151)
12 ILLUMINA ss3636940336 Oct 12, 2018 (152)
13 EVA ss3824409039 Apr 26, 2020 (154)
14 TOPMED ss4808675208 Apr 26, 2021 (155)
15 1000G_HIGH_COVERAGE ss5279411327 Oct 16, 2022 (156)
16 EVA ss5385336657 Oct 16, 2022 (156)
17 HUGCELL_USP ss5475741963 Oct 16, 2022 (156)
18 1000G_HIGH_COVERAGE ss5570976869 Oct 16, 2022 (156)
19 EVA ss5891575762 Oct 16, 2022 (156)
20 EVA ss5935964384 Oct 16, 2022 (156)
21 1000Genomes NC_000008.10 - 145738842 Oct 12, 2018 (152)
22 1000Genomes_30x NC_000008.11 - 144513458 Oct 16, 2022 (156)
23 ExAC NC_000008.10 - 145738842 Oct 12, 2018 (152)
24 gnomAD - Genomes NC_000008.11 - 144513458 Apr 26, 2021 (155)
25 gnomAD - Exomes NC_000008.10 - 145738842 Jul 13, 2019 (153)
26 GO Exome Sequencing Project NC_000008.10 - 145738842 Oct 12, 2018 (152)
27 Qatari NC_000008.10 - 145738842 Apr 26, 2020 (154)
28 TopMed NC_000008.11 - 144513458 Apr 26, 2021 (155)
29 ALFA NC_000008.11 - 144513458 Apr 26, 2021 (155)
30 ClinVar RCV000227653.10 Oct 16, 2022 (156)
31 ClinVar RCV001582778.4 Oct 16, 2022 (156)
32 ClinVar RCV001818607.3 Oct 16, 2022 (156)
33 ClinVar RCV002255138.1 Oct 16, 2022 (156)
Help

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
44667881, 9499726, 6627277, 866856, 11514519, ss481698249, ss712867792, ss1332451673, ss1689384435, ss1929472589, ss2737452048, ss2748138612, ss2874184417, ss3636940336, ss3824409039, ss5385336657, ss5935964384 NC_000008.10:145738841:G:A NC_000008.11:144513457:G:A (self)
RCV000227653.10, RCV001582778.4, RCV001818607.3, RCV002255138.1, 58502804, 314936601, 646052768, 9792255847, ss2308491849, ss4808675208, ss5279411327, ss5475741963, ss5570976869, ss5891575762 NC_000008.11:144513457:G:A NC_000008.11:144513457:G:A (self)
ss48298149, ss160620904 NT_037704.5:306253:G:A NC_000008.11:144513457:G:A (self)
Help

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

No publications for rs34271972

Help

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.

Software version is: 2.0.1.post761+d5e8e07