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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.

rs201840112

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:93347379 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.004643 (1229/264690, TOPMED)
T=0.00575 (157/27294, ALFA)
T=0.0056 (36/6404, 1000G_30x) (+ 5 more)
T=0.0056 (28/5008, 1000G)
T=0.0007 (3/4480, Estonian)
T=0.051 (11/216, Qatari)
G=0.5 (2/4, SGDP_PRJ)
T=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COX8C : Synonymous Variant
UNC79 : 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 27294 G=0.99425 A=0.00000, T=0.00575
European Sub 20060 G=0.99492 A=0.00000, T=0.00508
African Sub 3470 G=0.9971 A=0.0000, T=0.0029
African Others Sub 122 G=1.000 A=0.000, T=0.000
African American Sub 3348 G=0.9970 A=0.0000, T=0.0030
Asian Sub 166 G=1.000 A=0.000, T=0.000
East Asian Sub 110 G=1.000 A=0.000, T=0.000
Other Asian Sub 56 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 144 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 604 G=1.000 A=0.000, T=0.000
South Asian Sub 94 G=1.00 A=0.00, T=0.00
Other Sub 2756 G=0.9837 A=0.0000, T=0.0163


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=0.995357 T=0.004643
Allele Frequency Aggregator Total Global 27294 G=0.99425 A=0.00000, T=0.00575
Allele Frequency Aggregator European Sub 20060 G=0.99492 A=0.00000, T=0.00508
Allele Frequency Aggregator African Sub 3470 G=0.9971 A=0.0000, T=0.0029
Allele Frequency Aggregator Other Sub 2756 G=0.9837 A=0.0000, T=0.0163
Allele Frequency Aggregator Latin American 2 Sub 604 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 166 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 144 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 G=0.9944 T=0.0056
1000Genomes_30x African Sub 1786 G=0.9944 T=0.0056
1000Genomes_30x Europe Sub 1266 G=0.9953 T=0.0047
1000Genomes_30x South Asian Sub 1202 G=0.9834 T=0.0166
1000Genomes_30x East Asian Sub 1170 G=1.0000 T=0.0000
1000Genomes_30x American Sub 980 G=1.000 T=0.000
1000Genomes Global Study-wide 5008 G=0.9944 T=0.0056
1000Genomes African Sub 1322 G=0.9939 T=0.0061
1000Genomes East Asian Sub 1008 G=1.0000 T=0.0000
1000Genomes Europe Sub 1006 G=0.9960 T=0.0040
1000Genomes South Asian Sub 978 G=0.984 T=0.016
1000Genomes American Sub 694 G=1.000 T=0.000
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9993 T=0.0007
Qatari Global Study-wide 216 G=0.949 T=0.051
SGDP_PRJ Global Study-wide 4 G=0.5 T=0.5
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 14 NC_000014.9:g.93347379G>A
GRCh38.p14 chr 14 NC_000014.9:g.93347379G>T
UNC79 RefSeqGene NG_051662.1:g.19161G>A
UNC79 RefSeqGene NG_051662.1:g.19161G>T
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.461941G>A
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.461941G>T
GRCh37.p13 chr 14 NC_000014.8:g.93813725G>A
GRCh37.p13 chr 14 NC_000014.8:g.93813725G>T
Gene: UNC79, unc-79 homolog, NALCN channel complex subunit (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UNC79 transcript variant 2 NM_020818.5:c.-351+13856G…

NM_020818.5:c.-351+13856G>A

 		N/A Intron Variant
UNC79 transcript variant 1 NM_001346218.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant 4 NM_001395159.1:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant 3 NR_144398.1:n. N/A Intron Variant
UNC79 transcript variant X23 XM_011537027.3:c.-180+138…

XM_011537027.3:c.-180+13856G>A

 		N/A Intron Variant
UNC79 transcript variant X1 XM_011537018.3:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X2 XM_011537020.3:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X6 XM_011537022.3:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X7 XM_011537023.3:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X13 XM_011537024.3:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X16 XM_011537025.3:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X22 XM_011537026.3:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X29 XM_011537029.3:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X3 XM_017021506.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X4 XM_017021507.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X5 XM_017021508.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X8 XM_017021509.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X10 XM_017021510.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X12 XM_017021513.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X17 XM_017021514.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X18 XM_017021515.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X21 XM_017021516.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X26 XM_017021517.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X27 XM_017021518.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X28 XM_017021519.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X30 XM_017021520.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X9 XM_024449667.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X20 XM_024449668.2:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X11 XM_047431622.1:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X14 XM_047431623.1:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X15 XM_047431624.1:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X19 XM_047431625.1:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X24 XM_047431626.1:c. N/A Genic Upstream Transcript Variant
UNC79 transcript variant X25 XM_047431627.1:c. N/A Genic Upstream Transcript Variant
Gene: COX8C, cytochrome c oxidase subunit 8C (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COX8C transcript NM_182971.3:c.111G>A R [CGG] > R [CGA] Coding Sequence Variant
cytochrome c oxidase subunit 8C, mitochondrial NP_892016.1:p.Arg37= R (Arg) > R (Arg) Synonymous Variant
COX8C transcript NM_182971.3:c.111G>T R [CGG] > R [CGT] Coding Sequence Variant
cytochrome c oxidase subunit 8C, mitochondrial NP_892016.1:p.Arg37= R (Arg) > R (Arg) Synonymous 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 G= A T
GRCh38.p14 chr 14 NC_000014.9:g.93347379= NC_000014.9:g.93347379G>A NC_000014.9:g.93347379G>T
UNC79 RefSeqGene NG_051662.1:g.19161= NG_051662.1:g.19161G>A NG_051662.1:g.19161G>T
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.461941= NT_187601.1:g.461941G>A NT_187601.1:g.461941G>T
GRCh37.p13 chr 14 NC_000014.8:g.93813725= NC_000014.8:g.93813725G>A NC_000014.8:g.93813725G>T
COX8C transcript NM_182971.3:c.111= NM_182971.3:c.111G>A NM_182971.3:c.111G>T
COX8C transcript NM_182971.2:c.111= NM_182971.2:c.111G>A NM_182971.2:c.111G>T
cytochrome c oxidase subunit 8C, mitochondrial NP_892016.1:p.Arg37= NP_892016.1:p.Arg37= NP_892016.1:p.Arg37=
UNC79 transcript NM_020818.3:c.-351+13856= NM_020818.3:c.-351+13856G>A NM_020818.3:c.-351+13856G>T
UNC79 transcript variant 2 NM_020818.5:c.-351+13856= NM_020818.5:c.-351+13856G>A NM_020818.5:c.-351+13856G>T
UNC79 transcript variant X23 XM_011537027.3:c.-180+13856= XM_011537027.3:c.-180+13856G>A XM_011537027.3:c.-180+13856G>T
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#.

30 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss489038593 May 04, 2012 (137)
2 JMKIDD_LAB ss1067548178 Aug 21, 2014 (142)
3 1000GENOMES ss1352177503 Aug 21, 2014 (142)
4 EVA_EXAC ss1691606080 Apr 01, 2015 (144)
5 EVA_EXAC ss1691606081 Apr 01, 2015 (144)
6 EVA_DECODE ss1695471501 Apr 01, 2015 (144)
7 WEILL_CORNELL_DGM ss1934827694 Feb 12, 2016 (147)
8 HUMAN_LONGEVITY ss2204415599 Dec 20, 2016 (150)
9 GNOMAD ss2740909053 Nov 08, 2017 (151)
10 GNOMAD ss2749194957 Nov 08, 2017 (151)
11 GNOMAD ss2931020039 Nov 08, 2017 (151)
12 SWEGEN ss3012680836 Nov 08, 2017 (151)
13 OMUKHERJEE_ADBS ss3646464121 Oct 12, 2018 (152)
14 EGCUT_WGS ss3679945824 Jul 13, 2019 (153)
15 EVA_DECODE ss3697264671 Jul 13, 2019 (153)
16 EVA ss3825851136 Apr 27, 2020 (154)
17 SGDP_PRJ ss3882125072 Apr 27, 2020 (154)
18 FSA-LAB ss3984062343 Apr 27, 2021 (155)
19 EVA ss3986629408 Apr 27, 2021 (155)
20 TOPMED ss4980737356 Apr 27, 2021 (155)
21 1000G_HIGH_COVERAGE ss5297254468 Oct 16, 2022 (156)
22 EVA ss5417140151 Oct 16, 2022 (156)
23 HUGCELL_USP ss5491201717 Oct 16, 2022 (156)
24 1000G_HIGH_COVERAGE ss5598053945 Oct 16, 2022 (156)
25 EVA ss5624048007 Oct 16, 2022 (156)
26 SANFORD_IMAGENETICS ss5656805559 Oct 16, 2022 (156)
27 EVA ss5841518207 Oct 16, 2022 (156)
28 EVA ss5848390998 Oct 16, 2022 (156)
29 EVA ss5902528185 Oct 16, 2022 (156)
30 EVA ss5948268937 Oct 16, 2022 (156)
31 1000Genomes NC_000014.8 - 93813725 Oct 12, 2018 (152)
32 1000Genomes_30x NC_000014.9 - 93347379 Oct 16, 2022 (156)
33 Genetic variation in the Estonian population NC_000014.8 - 93813725 Oct 12, 2018 (152)
34 ExAC

Submission ignored due to conflicting rows:
Row 1961711 (NC_000014.8:93813724:G:G 36140/36142, NC_000014.8:93813724:G:A 2/36142)
Row 1961712 (NC_000014.8:93813724:G:G 35766/36142, NC_000014.8:93813724:G:T 376/36142)

- Oct 12, 2018 (152)
35 ExAC

Submission ignored due to conflicting rows:
Row 1961711 (NC_000014.8:93813724:G:G 36140/36142, NC_000014.8:93813724:G:A 2/36142)
Row 1961712 (NC_000014.8:93813724:G:G 35766/36142, NC_000014.8:93813724:G:T 376/36142)

- Oct 12, 2018 (152)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459655628 (NC_000014.9:93347378:G:A 4/140272)
Row 459655629 (NC_000014.9:93347378:G:T 583/140272)

- Apr 27, 2021 (155)
37 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 459655628 (NC_000014.9:93347378:G:A 4/140272)
Row 459655629 (NC_000014.9:93347378:G:T 583/140272)

- Apr 27, 2021 (155)
38 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 10166841 (NC_000014.8:93813724:G:G 157769/157774, NC_000014.8:93813724:G:A 5/157774)
Row 10166842 (NC_000014.8:93813724:G:G 156650/157774, NC_000014.8:93813724:G:T 1124/157774)

- Jul 13, 2019 (153)
39 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 10166841 (NC_000014.8:93813724:G:G 157769/157774, NC_000014.8:93813724:G:A 5/157774)
Row 10166842 (NC_000014.8:93813724:G:G 156650/157774, NC_000014.8:93813724:G:T 1124/157774)

- Jul 13, 2019 (153)
40 Qatari NC_000014.8 - 93813725 Apr 27, 2020 (154)
41 SGDP_PRJ NC_000014.8 - 93813725 Apr 27, 2020 (154)
42 TopMed NC_000014.9 - 93347379 Apr 27, 2021 (155)
43 ALFA NC_000014.9 - 93347379 Apr 27, 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
ss1691606081, ss2740909053, ss2749194957, ss2931020039 NC_000014.8:93813724:G:A NC_000014.9:93347378:G:A (self)
8945251453, ss2204415599 NC_000014.9:93347378:G:A NC_000014.9:93347378:G:A (self)
ss1695471501 NC_000014.7:92883477:G:T NC_000014.9:93347378:G:T (self)
65202987, 25684072, 16869624, 34142052, ss489038593, ss1067548178, ss1352177503, ss1691606080, ss1934827694, ss2740909053, ss2749194957, ss2931020039, ss3012680836, ss3646464121, ss3679945824, ss3825851136, ss3882125072, ss3984062343, ss3986629408, ss5417140151, ss5624048007, ss5656805559, ss5841518207, ss5848390998, ss5948268937 NC_000014.8:93813724:G:T NC_000014.9:93347378:G:T (self)
85579880, 196283015, 8945251453, ss2204415599, ss3697264671, ss4980737356, ss5297254468, ss5491201717, ss5598053945, ss5902528185 NC_000014.9:93347378:G:T NC_000014.9:93347378:G: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 rs201840112

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