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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.

rs73024674

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:21121875 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.069583 (18418/264690, TOPMED)
G=0.080279 (11219/139750, GnomAD)
G=0.08125 (2485/30584, ALFA) (+ 14 more)
G=0.00018 (5/28258, 14KJPN)
G=0.00012 (2/16760, 8.3KJPN)
G=0.0543 (348/6404, 1000G_30x)
G=0.0543 (272/5008, 1000G)
G=0.1004 (450/4480, Estonian)
G=0.0921 (355/3854, ALSPAC)
G=0.0833 (309/3708, TWINSUK)
G=0.089 (89/998, GoNL)
G=0.145 (87/600, NorthernSweden)
G=0.088 (19/216, Qatari)
A=0.48 (25/52, SGDP_PRJ)
G=0.05 (2/40, GENOME_DK)
A=0.50 (7/14, Siberian)
G=0.50 (7/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF714 : 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 30584 A=0.91875 G=0.08125, T=0.00000
European Sub 24520 A=0.91440 G=0.08560, T=0.00000
African Sub 3104 A=0.9465 G=0.0535, T=0.0000
African Others Sub 114 A=0.956 G=0.044, T=0.000
African American Sub 2990 A=0.9462 G=0.0538, T=0.0000
Asian Sub 128 A=1.000 G=0.000, T=0.000
East Asian Sub 100 A=1.00 G=0.00, T=0.00
Other Asian Sub 28 A=1.00 G=0.00, T=0.00
Latin American 1 Sub 168 A=0.935 G=0.065, T=0.000
Latin American 2 Sub 700 A=0.940 G=0.060, T=0.000
South Asian Sub 114 A=0.930 G=0.070, T=0.000
Other Sub 1850 A=0.9141 G=0.0859, T=0.0000


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 A=0.930417 G=0.069583
gnomAD - Genomes Global Study-wide 139750 A=0.919721 G=0.080279
gnomAD - Genomes European Sub 75664 A=0.90093 G=0.09907
gnomAD - Genomes African Sub 41868 A=0.93809 G=0.06191
gnomAD - Genomes American Sub 13628 A=0.94541 G=0.05459
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.9328 G=0.0672
gnomAD - Genomes East Asian Sub 3126 A=0.9984 G=0.0016
gnomAD - Genomes Other Sub 2146 A=0.9259 G=0.0741
Allele Frequency Aggregator Total Global 30584 A=0.91875 G=0.08125, T=0.00000
Allele Frequency Aggregator European Sub 24520 A=0.91440 G=0.08560, T=0.00000
Allele Frequency Aggregator African Sub 3104 A=0.9465 G=0.0535, T=0.0000
Allele Frequency Aggregator Other Sub 1850 A=0.9141 G=0.0859, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 700 A=0.940 G=0.060, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 168 A=0.935 G=0.065, T=0.000
Allele Frequency Aggregator Asian Sub 128 A=1.000 G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 114 A=0.930 G=0.070, T=0.000
14KJPN JAPANESE Study-wide 28258 A=0.99982 G=0.00018
8.3KJPN JAPANESE Study-wide 16760 A=0.99988 G=0.00012
1000Genomes_30x Global Study-wide 6404 A=0.9457 G=0.0543
1000Genomes_30x African Sub 1786 A=0.9390 G=0.0610
1000Genomes_30x Europe Sub 1266 A=0.8870 G=0.1130
1000Genomes_30x South Asian Sub 1202 A=0.9559 G=0.0441
1000Genomes_30x East Asian Sub 1170 A=0.9991 G=0.0009
1000Genomes_30x American Sub 980 A=0.957 G=0.043
1000Genomes Global Study-wide 5008 A=0.9457 G=0.0543
1000Genomes African Sub 1322 A=0.9357 G=0.0643
1000Genomes East Asian Sub 1008 A=0.9990 G=0.0010
1000Genomes Europe Sub 1006 A=0.8867 G=0.1133
1000Genomes South Asian Sub 978 A=0.955 G=0.045
1000Genomes American Sub 694 A=0.960 G=0.040
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8996 G=0.1004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9079 G=0.0921
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9167 G=0.0833
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.911 G=0.089
Northern Sweden ACPOP Study-wide 600 A=0.855 G=0.145
Qatari Global Study-wide 216 A=0.912 G=0.088
SGDP_PRJ Global Study-wide 52 A=0.48 G=0.52
The Danish reference pan genome Danish Study-wide 40 A=0.95 G=0.05
Siberian Global Study-wide 14 A=0.50 G=0.50
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 19 NC_000019.10:g.21121875A>G
GRCh38.p14 chr 19 NC_000019.10:g.21121875A>T
GRCh37.p13 chr 19 NC_000019.9:g.21304678A>G
GRCh37.p13 chr 19 NC_000019.9:g.21304678A>T
Gene: ZNF714, zinc finger protein 714 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF714 transcript variant 1 NM_182515.4:c.*3543= N/A 3 Prime UTR Variant
ZNF714 transcript variant 2 NR_117086.2:n. N/A Intron Variant
ZNF714 transcript variant 3 NR_117087.2:n. N/A Intron Variant
ZNF714 transcript variant 4 NR_117088.2: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 A= G T
GRCh38.p14 chr 19 NC_000019.10:g.21121875= NC_000019.10:g.21121875A>G NC_000019.10:g.21121875A>T
GRCh37.p13 chr 19 NC_000019.9:g.21304678= NC_000019.9:g.21304678A>G NC_000019.9:g.21304678A>T
ZNF714 transcript variant 1 NM_182515.4:c.*3543= NM_182515.4:c.*3543A>G NM_182515.4:c.*3543A>T
ZNF714 transcript variant 1 NM_182515.3:c.*3543= NM_182515.3:c.*3543A>G NM_182515.3:c.*3543A>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#.

54 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss111188131 Feb 13, 2009 (130)
2 COMPLETE_GENOMICS ss167948070 Jul 04, 2010 (132)
3 BCM-HGSC-SUB ss208449086 Jul 04, 2010 (132)
4 1000GENOMES ss237630200 Jul 15, 2010 (132)
5 GMI ss287358658 Apr 25, 2013 (138)
6 ILLUMINA ss479536655 May 04, 2012 (137)
7 ILLUMINA ss483804719 May 04, 2012 (137)
8 ILLUMINA ss533070780 Sep 08, 2015 (146)
9 TISHKOFF ss565904624 Apr 25, 2013 (138)
10 SSMP ss661762526 Apr 25, 2013 (138)
11 ILLUMINA ss779478833 Sep 08, 2015 (146)
12 ILLUMINA ss781006055 Sep 08, 2015 (146)
13 ILLUMINA ss834948832 Sep 08, 2015 (146)
14 EVA-GONL ss994172768 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1081813207 Aug 21, 2014 (142)
16 1000GENOMES ss1362675218 Aug 21, 2014 (142)
17 DDI ss1428361696 Apr 01, 2015 (144)
18 EVA_GENOME_DK ss1578590106 Apr 01, 2015 (144)
19 EVA_UK10K_ALSPAC ss1637719916 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1680713949 Apr 01, 2015 (144)
21 EVA_DECODE ss1698230790 Apr 01, 2015 (144)
22 WEILL_CORNELL_DGM ss1937660156 Feb 12, 2016 (147)
23 GENOMED ss1968619179 Jul 19, 2016 (147)
24 JJLAB ss2029604502 Sep 14, 2016 (149)
25 USC_VALOUEV ss2158135084 Dec 20, 2016 (150)
26 HUMAN_LONGEVITY ss2224929994 Dec 20, 2016 (150)
27 ILLUMINA ss2633526968 Nov 08, 2017 (151)
28 GNOMAD ss2961416567 Nov 08, 2017 (151)
29 SWEGEN ss3017246156 Nov 08, 2017 (151)
30 BIOINF_KMB_FNS_UNIBA ss3028634671 Nov 08, 2017 (151)
31 CSHL ss3352238482 Nov 08, 2017 (151)
32 ILLUMINA ss3627907733 Oct 12, 2018 (152)
33 ILLUMINA ss3631499285 Oct 12, 2018 (152)
34 EGCUT_WGS ss3684060983 Jul 13, 2019 (153)
35 EVA_DECODE ss3702518096 Jul 13, 2019 (153)
36 EVA_DECODE ss3702518097 Jul 13, 2019 (153)
37 ACPOP ss3742930093 Jul 13, 2019 (153)
38 EVA ss3755910061 Jul 13, 2019 (153)
39 KHV_HUMAN_GENOMES ss3821164020 Jul 13, 2019 (153)
40 EVA ss3835397378 Apr 27, 2020 (154)
41 SGDP_PRJ ss3887946477 Apr 27, 2020 (154)
42 TOPMED ss5070710391 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5227157957 Apr 26, 2021 (155)
44 1000G_HIGH_COVERAGE ss5306802035 Oct 16, 2022 (156)
45 EVA ss5434070538 Oct 16, 2022 (156)
46 HUGCELL_USP ss5499389468 Oct 16, 2022 (156)
47 EVA ss5512060025 Oct 16, 2022 (156)
48 1000G_HIGH_COVERAGE ss5612323769 Oct 16, 2022 (156)
49 SANFORD_IMAGENETICS ss5662143936 Oct 16, 2022 (156)
50 TOMMO_GENOMICS ss5785583398 Oct 16, 2022 (156)
51 YY_MCH ss5817482694 Oct 16, 2022 (156)
52 EVA ss5840375173 Oct 16, 2022 (156)
53 EVA ss5927620604 Oct 16, 2022 (156)
54 EVA ss5953560376 Oct 16, 2022 (156)
55 1000Genomes NC_000019.9 - 21304678 Oct 12, 2018 (152)
56 1000Genomes_30x NC_000019.10 - 21121875 Oct 16, 2022 (156)
57 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 21304678 Oct 12, 2018 (152)
58 Genetic variation in the Estonian population NC_000019.9 - 21304678 Oct 12, 2018 (152)
59 The Danish reference pan genome NC_000019.9 - 21304678 Apr 27, 2020 (154)
60 gnomAD - Genomes NC_000019.10 - 21121875 Apr 26, 2021 (155)
61 Genome of the Netherlands Release 5 NC_000019.9 - 21304678 Apr 27, 2020 (154)
62 Northern Sweden NC_000019.9 - 21304678 Jul 13, 2019 (153)
63 Qatari NC_000019.9 - 21304678 Apr 27, 2020 (154)
64 SGDP_PRJ NC_000019.9 - 21304678 Apr 27, 2020 (154)
65 Siberian NC_000019.9 - 21304678 Apr 27, 2020 (154)
66 8.3KJPN NC_000019.9 - 21304678 Apr 26, 2021 (155)
67 14KJPN NC_000019.10 - 21121875 Oct 16, 2022 (156)
68 TopMed NC_000019.10 - 21121875 Apr 26, 2021 (155)
69 UK 10K study - Twins NC_000019.9 - 21304678 Oct 12, 2018 (152)
70 ALFA NC_000019.10 - 21121875 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
ss111188131, ss167948070, ss208449086, ss287358658, ss483804719, ss1698230790 NC_000019.8:21096517:A:G NC_000019.10:21121874:A:G (self)
76065253, 42135181, 29799231, 4774436, 18771927, 16214958, 19702078, 39963457, 10651438, 85127264, 42135181, ss237630200, ss479536655, ss533070780, ss565904624, ss661762526, ss779478833, ss781006055, ss834948832, ss994172768, ss1081813207, ss1362675218, ss1428361696, ss1578590106, ss1637719916, ss1680713949, ss1937660156, ss1968619179, ss2029604502, ss2158135084, ss2633526968, ss2961416567, ss3017246156, ss3352238482, ss3627907733, ss3631499285, ss3684060983, ss3742930093, ss3755910061, ss3835397378, ss3887946477, ss5227157957, ss5434070538, ss5512060025, ss5662143936, ss5840375173, ss5953560376 NC_000019.9:21304677:A:G NC_000019.10:21121874:A:G (self)
99849704, 536479692, 119420502, 286256055, 305610499, ss2224929994, ss3028634671, ss3702518096, ss3821164020, ss5070710391, ss5306802035, ss5499389468, ss5612323769, ss5785583398, ss5817482694, ss5927620604 NC_000019.10:21121874:A:G NC_000019.10:21121874:A:G (self)
305610499, ss3702518097 NC_000019.10:21121874:A:T NC_000019.10:21121874:A: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 rs73024674

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