Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs73211812

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:979695 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00136 (26/19054, ALFA)
T=0.0030 (19/6404, 1000G_30x)
T=0.0020 (10/5008, 1000G) (+ 6 more)
T=0.0049 (22/4480, Estonian)
T=0.0083 (32/3854, ALSPAC)
T=0.0062 (23/3708, TWINSUK)
T=0.013 (13/998, GoNL)
T=0.008 (5/600, NorthernSweden)
T=0.03 (1/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SLC26A1 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 19054 C=0.99864 A=0.00000, G=0.00000, T=0.00136
European Sub 14178 C=0.99838 A=0.00000, G=0.00000, T=0.00162
African Sub 2944 C=1.0000 A=0.0000, G=0.0000, T=0.0000
African Others Sub 112 C=1.000 A=0.000, G=0.000, T=0.000
African American Sub 2832 C=1.0000 A=0.0000, G=0.0000, T=0.0000
Asian Sub 116 C=1.000 A=0.000, G=0.000, T=0.000
East Asian Sub 88 C=1.00 A=0.00, G=0.00, T=0.00
Other Asian Sub 28 C=1.00 A=0.00, G=0.00, T=0.00
Latin American 1 Sub 154 C=0.994 A=0.000, G=0.000, T=0.006
Latin American 2 Sub 614 C=1.000 A=0.000, G=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, G=0.00, T=0.00
Other Sub 950 C=0.998 A=0.000, G=0.000, T=0.002


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
Allele Frequency Aggregator Total Global 19054 C=0.99864 A=0.00000, G=0.00000, T=0.00136
Allele Frequency Aggregator European Sub 14178 C=0.99838 A=0.00000, G=0.00000, T=0.00162
Allele Frequency Aggregator African Sub 2944 C=1.0000 A=0.0000, G=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 950 C=0.998 A=0.000, G=0.000, T=0.002
Allele Frequency Aggregator Latin American 2 Sub 614 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 154 C=0.994 A=0.000, G=0.000, T=0.006
Allele Frequency Aggregator Asian Sub 116 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, G=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9970 T=0.0030
1000Genomes_30x African Sub 1786 C=0.9966 T=0.0034
1000Genomes_30x Europe Sub 1266 C=0.9913 T=0.0087
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=0.9983 T=0.0017
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9980 T=0.0020
1000Genomes African Sub 1322 C=0.9977 T=0.0023
1000Genomes East Asian Sub 1008 C=0.9990 T=0.0010
1000Genomes Europe Sub 1006 C=0.9940 T=0.0060
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9951 T=0.0049
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9917 T=0.0083
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9938 T=0.0062
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.987 T=0.013
Northern Sweden ACPOP Study-wide 600 C=0.992 T=0.008
The Danish reference pan genome Danish Study-wide 40 C=0.97 T=0.03
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 4 NC_000004.12:g.979695C>A
GRCh38.p14 chr 4 NC_000004.12:g.979695C>G
GRCh38.p14 chr 4 NC_000004.12:g.979695C>T
GRCh37.p13 chr 4 NC_000004.11:g.973483C>A
GRCh37.p13 chr 4 NC_000004.11:g.973483C>G
GRCh37.p13 chr 4 NC_000004.11:g.973483C>T
SLC26A1 RefSeqGene NG_033042.1:g.18742G>T
SLC26A1 RefSeqGene NG_033042.1:g.18742G>C
SLC26A1 RefSeqGene NG_033042.1:g.18742G>A
Gene: SLC26A1, solute carrier family 26 member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC26A1 transcript variant 2 NM_134425.4:c.577-191G>T N/A Intron Variant
SLC26A1 transcript variant 1 NM_022042.4:c. N/A Genic Downstream Transcript Variant
SLC26A1 transcript variant 3 NM_213613.4:c. N/A Genic Downstream Transcript Variant
SLC26A1 transcript variant X1 XR_007096347.1:n. N/A Intron 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.

Not Reported in ClinVar
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 G T
GRCh38.p14 chr 4 NC_000004.12:g.979695= NC_000004.12:g.979695C>A NC_000004.12:g.979695C>G NC_000004.12:g.979695C>T
GRCh37.p13 chr 4 NC_000004.11:g.973483= NC_000004.11:g.973483C>A NC_000004.11:g.973483C>G NC_000004.11:g.973483C>T
SLC26A1 RefSeqGene NG_033042.1:g.18742= NG_033042.1:g.18742G>T NG_033042.1:g.18742G>C NG_033042.1:g.18742G>A
SLC26A1 transcript variant 2 NM_134425.2:c.577-191= NM_134425.2:c.577-191G>T NM_134425.2:c.577-191G>C NM_134425.2:c.577-191G>A
SLC26A1 transcript variant 2 NM_134425.4:c.577-191= NM_134425.4:c.577-191G>T NM_134425.4:c.577-191G>C NM_134425.4:c.577-191G>A
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#.

29 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss112843279 Feb 14, 2009 (130)
2 1000GENOMES ss331376110 May 09, 2011 (134)
3 ILLUMINA ss536024520 Sep 08, 2015 (146)
4 TISHKOFF ss557250145 Apr 25, 2013 (138)
5 EVA-GONL ss979667050 Aug 21, 2014 (142)
6 1000GENOMES ss1308064864 Aug 21, 2014 (142)
7 EVA_GENOME_DK ss1580378217 Apr 01, 2015 (144)
8 EVA_DECODE ss1589163771 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1609224858 Apr 01, 2015 (144)
10 EVA_UK10K_TWINSUK ss1652218891 Apr 01, 2015 (144)
11 HUMAN_LONGEVITY ss2259775181 Dec 20, 2016 (150)
12 GNOMAD ss2804620288 Nov 08, 2017 (151)
13 SWEGEN ss2993982800 Nov 08, 2017 (151)
14 ILLUMINA ss3625835730 Oct 12, 2018 (152)
15 ILLUMINA ss3628882781 Oct 12, 2018 (152)
16 EGCUT_WGS ss3661921683 Jul 13, 2019 (153)
17 EVA_DECODE ss3711224255 Jul 13, 2019 (153)
18 ACPOP ss3730773059 Jul 13, 2019 (153)
19 EVA ss3761277089 Jul 13, 2019 (153)
20 TOPMED ss4599983773 Apr 26, 2021 (155)
21 TOPMED ss4599983774 Apr 26, 2021 (155)
22 1000G_HIGH_COVERAGE ss5257720633 Oct 17, 2022 (156)
23 EVA ss5346333279 Oct 17, 2022 (156)
24 HUGCELL_USP ss5456678695 Oct 17, 2022 (156)
25 1000G_HIGH_COVERAGE ss5538009958 Oct 17, 2022 (156)
26 SANFORD_IMAGENETICS ss5634161882 Oct 17, 2022 (156)
27 EVA ss5843419949 Oct 17, 2022 (156)
28 EVA ss5861792565 Oct 17, 2022 (156)
29 EVA ss5962537759 Oct 17, 2022 (156)
30 1000Genomes NC_000004.11 - 973483 Oct 12, 2018 (152)
31 1000Genomes_30x NC_000004.12 - 979695 Oct 17, 2022 (156)
32 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 973483 Oct 12, 2018 (152)
33 Genetic variation in the Estonian population NC_000004.11 - 973483 Oct 12, 2018 (152)
34 The Danish reference pan genome NC_000004.11 - 973483 Apr 25, 2020 (154)
35 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 137740329 (NC_000004.12:979694:C:A 4/140274)
Row 137740330 (NC_000004.12:979694:C:T 674/140274)

- Apr 26, 2021 (155)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 137740329 (NC_000004.12:979694:C:A 4/140274)
Row 137740330 (NC_000004.12:979694:C:T 674/140274)

- Apr 26, 2021 (155)
37 Genome of the Netherlands Release 5 NC_000004.11 - 973483 Apr 25, 2020 (154)
38 Northern Sweden NC_000004.11 - 973483 Jul 13, 2019 (153)
39 TopMed

Submission ignored due to conflicting rows:
Row 437361329 (NC_000004.12:979694:C:A 5/264690)
Row 437361330 (NC_000004.12:979694:C:T 1046/264690)

- Apr 26, 2021 (155)
40 TopMed

Submission ignored due to conflicting rows:
Row 437361329 (NC_000004.12:979694:C:A 5/264690)
Row 437361330 (NC_000004.12:979694:C:T 1046/264690)

- Apr 26, 2021 (155)
41 UK 10K study - Twins NC_000004.11 - 973483 Oct 12, 2018 (152)
42 ALFA NC_000004.12 - 979695 Apr 26, 2021 (155)
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
ss2804620288 NC_000004.11:973482:C:A NC_000004.12:979694:C:A (self)
5541246261, ss4599983773 NC_000004.12:979694:C:A NC_000004.12:979694:C:A (self)
5541246261 NC_000004.12:979694:C:G NC_000004.12:979694:C:G (self)
ss112843279, ss1589163771 NC_000004.10:963482:C:T NC_000004.12:979694:C:T (self)
19402067, 10815935, 7659931, 6543156, 4754164, 4057924, 10815935, ss331376110, ss536024520, ss557250145, ss979667050, ss1308064864, ss1580378217, ss1609224858, ss1652218891, ss2804620288, ss2993982800, ss3625835730, ss3628882781, ss3661921683, ss3730773059, ss3761277089, ss5346333279, ss5634161882, ss5843419949, ss5962537759 NC_000004.11:973482:C:T NC_000004.12:979694:C:T (self)
25535893, 5541246261, ss2259775181, ss3711224255, ss4599983774, ss5257720633, ss5456678695, ss5538009958, ss5861792565 NC_000004.12:979694:C:T NC_000004.12:979694:C:T (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 rs73211812

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