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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.

rs9894946

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:7667762 (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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.114549 (30320/264690, TOPMED)
A=0.01925 (544/28256, 14KJPN)
A=0.14137 (2806/19848, ALFA) (+ 15 more)
A=0.02023 (339/16758, 8.3KJPN)
A=0.1138 (729/6404, 1000G_30x)
A=0.1168 (585/5008, 1000G)
A=0.1565 (701/4480, Estonian)
A=0.1539 (593/3854, ALSPAC)
A=0.1510 (560/3708, TWINSUK)
A=0.0301 (88/2928, KOREAN)
A=0.0338 (62/1832, Korea1K)
A=0.150 (150/998, GoNL)
A=0.200 (120/600, NorthernSweden)
A=0.105 (56/534, SGDP_PRJ)
A=0.329 (71/216, Qatari)
A=0.023 (5/214, Vietnamese)
A=0.09 (5/56, Siberian)
A=0.07 (3/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
10 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele
Total Global 19848 A=0.14137 G=0.85863
European Sub 14926 A=0.16106 G=0.83894
African Sub 2970 A=0.0532 G=0.9468
African Others Sub 114 A=0.035 G=0.965
African American Sub 2856 A=0.0539 G=0.9461
Asian Sub 116 A=0.026 G=0.974
East Asian Sub 88 A=0.02 G=0.98
Other Asian Sub 28 A=0.04 G=0.96
Latin American 1 Sub 154 A=0.227 G=0.773
Latin American 2 Sub 616 A=0.094 G=0.906
South Asian Sub 98 A=0.29 G=0.71
Other Sub 968 A=0.124 G=0.876


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=0.114549 G=0.885451
14KJPN JAPANESE Study-wide 28256 A=0.01925 G=0.98075
Allele Frequency Aggregator Total Global 19848 A=0.14137 G=0.85863
Allele Frequency Aggregator European Sub 14926 A=0.16106 G=0.83894
Allele Frequency Aggregator African Sub 2970 A=0.0532 G=0.9468
Allele Frequency Aggregator Other Sub 968 A=0.124 G=0.876
Allele Frequency Aggregator Latin American 2 Sub 616 A=0.094 G=0.906
Allele Frequency Aggregator Latin American 1 Sub 154 A=0.227 G=0.773
Allele Frequency Aggregator Asian Sub 116 A=0.026 G=0.974
Allele Frequency Aggregator South Asian Sub 98 A=0.29 G=0.71
8.3KJPN JAPANESE Study-wide 16758 A=0.02023 G=0.97977
1000Genomes_30x Global Study-wide 6404 A=0.1138 G=0.8862
1000Genomes_30x African Sub 1786 A=0.0498 G=0.9502
1000Genomes_30x Europe Sub 1266 A=0.1667 G=0.8333
1000Genomes_30x South Asian Sub 1202 A=0.2762 G=0.7238
1000Genomes_30x East Asian Sub 1170 A=0.0274 G=0.9726
1000Genomes_30x American Sub 980 A=0.066 G=0.934
1000Genomes Global Study-wide 5008 A=0.1168 G=0.8832
1000Genomes African Sub 1322 A=0.0507 G=0.9493
1000Genomes East Asian Sub 1008 A=0.0238 G=0.9762
1000Genomes Europe Sub 1006 A=0.1710 G=0.8290
1000Genomes South Asian Sub 978 A=0.280 G=0.720
1000Genomes American Sub 694 A=0.069 G=0.931
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1565 G=0.8435
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1539 G=0.8461
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1510 G=0.8490
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.0301 C=0.0000, G=0.9699, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.0338 G=0.9662
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.150 G=0.850
Northern Sweden ACPOP Study-wide 600 A=0.200 G=0.800
SGDP_PRJ Global Study-wide 534 A=0.105 G=0.895
Qatari Global Study-wide 216 A=0.329 G=0.671
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.023 G=0.977
Siberian Global Study-wide 56 A=0.09 G=0.91
The Danish reference pan genome Danish Study-wide 40 A=0.07 G=0.93
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 17 NC_000017.11:g.7667762A>C
GRCh38.p14 chr 17 NC_000017.11:g.7667762A>G
GRCh38.p14 chr 17 NC_000017.11:g.7667762A>T
GRCh37.p13 chr 17 NC_000017.10:g.7571080A>C
GRCh37.p13 chr 17 NC_000017.10:g.7571080A>G
GRCh37.p13 chr 17 NC_000017.10:g.7571080A>T
TP53 RefSeqGene (LRG_321) NG_017013.2:g.24789T>G
TP53 RefSeqGene (LRG_321) NG_017013.2:g.24789T>C
TP53 RefSeqGene (LRG_321) NG_017013.2:g.24789T>A
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= C G T
GRCh38.p14 chr 17 NC_000017.11:g.7667762= NC_000017.11:g.7667762A>C NC_000017.11:g.7667762A>G NC_000017.11:g.7667762A>T
GRCh37.p13 chr 17 NC_000017.10:g.7571080= NC_000017.10:g.7571080A>C NC_000017.10:g.7571080A>G NC_000017.10:g.7571080A>T
TP53 RefSeqGene (LRG_321) NG_017013.2:g.24789= NG_017013.2:g.24789T>G NG_017013.2:g.24789T>C NG_017013.2:g.24789T>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#.

83 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss13732466 Dec 05, 2003 (119)
2 SSAHASNP ss21398234 Apr 05, 2004 (121)
3 PERLEGEN ss24584449 Sep 20, 2004 (123)
4 EGP_SNPS ss32469511 Dec 02, 2004 (126)
5 ABI ss40808378 Mar 10, 2006 (126)
6 SNP500CANCER ss48297308 Mar 10, 2006 (126)
7 HGSV ss77332441 Dec 07, 2007 (129)
8 HGSV ss78212024 Dec 07, 2007 (129)
9 HGSV ss82330653 Dec 14, 2007 (130)
10 BCMHGSC_JDW ss90524404 Mar 24, 2008 (129)
11 BGI ss106496128 Feb 03, 2009 (130)
12 1000GENOMES ss109625003 Jan 24, 2009 (130)
13 1000GENOMES ss113260754 Jan 25, 2009 (130)
14 ILLUMINA-UK ss117989597 Feb 14, 2009 (130)
15 ENSEMBL ss136498765 Dec 01, 2009 (131)
16 ENSEMBL ss136962610 Dec 01, 2009 (131)
17 GMI ss157812086 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss167754971 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss169011499 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss171135496 Jul 04, 2010 (132)
21 BUSHMAN ss202184338 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss207848733 Jul 04, 2010 (132)
23 1000GENOMES ss227449828 Jul 14, 2010 (132)
24 1000GENOMES ss237173857 Jul 15, 2010 (132)
25 1000GENOMES ss243485856 Jul 15, 2010 (132)
26 BL ss255474775 May 09, 2011 (134)
27 GMI ss282682465 May 04, 2012 (137)
28 GMI ss287142905 Apr 25, 2013 (138)
29 PJP ss292010350 May 09, 2011 (134)
30 ILLUMINA ss534600711 Sep 08, 2015 (146)
31 TISHKOFF ss565152363 Apr 25, 2013 (138)
32 SSMP ss660940261 Apr 25, 2013 (138)
33 EVA-GONL ss992899160 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1080914520 Aug 21, 2014 (142)
35 1000GENOMES ss1357813165 Aug 21, 2014 (142)
36 DDI ss1427970269 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1578079104 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1635240292 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1678234325 Apr 01, 2015 (144)
40 EVA_DECODE ss1696939948 Apr 01, 2015 (144)
41 HAMMER_LAB ss1808692584 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1936345917 Feb 12, 2016 (147)
43 GENOMED ss1968346958 Jul 19, 2016 (147)
44 JJLAB ss2028961061 Sep 14, 2016 (149)
45 USC_VALOUEV ss2157408793 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2215319139 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2628972654 Nov 08, 2017 (151)
48 ILLUMINA ss2635068045 Nov 08, 2017 (151)
49 GRF ss2701951489 Nov 08, 2017 (151)
50 GNOMAD ss2947435700 Nov 08, 2017 (151)
51 AFFY ss2985722788 Nov 08, 2017 (151)
52 SWEGEN ss3015157732 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3028299694 Nov 08, 2017 (151)
54 CSHL ss3351641693 Nov 08, 2017 (151)
55 ILLUMINA ss3627620193 Oct 12, 2018 (152)
56 URBANLAB ss3650598892 Oct 12, 2018 (152)
57 EGCUT_WGS ss3682122947 Jul 13, 2019 (153)
58 EVA_DECODE ss3700039657 Jul 13, 2019 (153)
59 ACPOP ss3741852612 Jul 13, 2019 (153)
60 EVA ss3754421708 Jul 13, 2019 (153)
61 PACBIO ss3788143244 Jul 13, 2019 (153)
62 PACBIO ss3793112545 Jul 13, 2019 (153)
63 PACBIO ss3797998175 Jul 13, 2019 (153)
64 KHV_HUMAN_GENOMES ss3819691710 Jul 13, 2019 (153)
65 EVA ss3834767296 Apr 27, 2020 (154)
66 EVA ss3840992128 Apr 27, 2020 (154)
67 EVA ss3846486524 Apr 27, 2020 (154)
68 SGDP_PRJ ss3885289623 Apr 27, 2020 (154)
69 KRGDB ss3934882482 Apr 27, 2020 (154)
70 KOGIC ss3978354018 Apr 27, 2020 (154)
71 TOPMED ss5028669086 Apr 27, 2021 (155)
72 TOMMO_GENOMICS ss5221389168 Apr 27, 2021 (155)
73 1000G_HIGH_COVERAGE ss5302344403 Oct 17, 2022 (156)
74 EVA ss5426240972 Oct 17, 2022 (156)
75 HUGCELL_USP ss5495527519 Oct 17, 2022 (156)
76 1000G_HIGH_COVERAGE ss5605659250 Oct 17, 2022 (156)
77 SANFORD_IMAGENETICS ss5659676615 Oct 17, 2022 (156)
78 TOMMO_GENOMICS ss5776953976 Oct 17, 2022 (156)
79 YY_MCH ss5816315674 Oct 17, 2022 (156)
80 EVA ss5833689463 Oct 17, 2022 (156)
81 EVA ss5851729106 Oct 17, 2022 (156)
82 EVA ss5913134213 Oct 17, 2022 (156)
83 EVA ss5951086840 Oct 17, 2022 (156)
84 1000Genomes NC_000017.10 - 7571080 Oct 12, 2018 (152)
85 1000Genomes_30x NC_000017.11 - 7667762 Oct 17, 2022 (156)
86 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 7571080 Oct 12, 2018 (152)
87 Genetic variation in the Estonian population NC_000017.10 - 7571080 Oct 12, 2018 (152)
88 The Danish reference pan genome NC_000017.10 - 7571080 Apr 27, 2020 (154)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 500818627 (NC_000017.11:7667761:A:C 1/140204)
Row 500818628 (NC_000017.11:7667761:A:G 123284/140172)

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

Submission ignored due to conflicting rows:
Row 500818627 (NC_000017.11:7667761:A:C 1/140204)
Row 500818628 (NC_000017.11:7667761:A:G 123284/140172)

- Apr 27, 2021 (155)
91 Genome of the Netherlands Release 5 NC_000017.10 - 7571080 Apr 27, 2020 (154)
92 KOREAN population from KRGDB NC_000017.10 - 7571080 Apr 27, 2020 (154)
93 Korean Genome Project NC_000017.11 - 7667762 Apr 27, 2020 (154)
94 Northern Sweden NC_000017.10 - 7571080 Jul 13, 2019 (153)
95 Qatari NC_000017.10 - 7571080 Apr 27, 2020 (154)
96 SGDP_PRJ NC_000017.10 - 7571080 Apr 27, 2020 (154)
97 Siberian NC_000017.10 - 7571080 Apr 27, 2020 (154)
98 8.3KJPN NC_000017.10 - 7571080 Apr 27, 2021 (155)
99 14KJPN NC_000017.11 - 7667762 Oct 17, 2022 (156)
100 TopMed NC_000017.11 - 7667762 Apr 27, 2021 (155)
101 UK 10K study - Twins NC_000017.10 - 7571080 Oct 12, 2018 (152)
102 A Vietnamese Genetic Variation Database NC_000017.10 - 7571080 Jul 13, 2019 (153)
103 ALFA NC_000017.11 - 7667762 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).

Associated ID History Updated (Build)
rs17644362 Oct 08, 2004 (123)
rs17880163 Mar 10, 2006 (126)
rs56762439 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
42059876, ss2947435700, ss3934882482 NC_000017.10:7571079:A:C NC_000017.11:7667761:A:C (self)
NC_000017.11:7667761:A:C NC_000017.11:7667761:A:C (self)
ss77332441, ss78212024, ss82330653, ss90524404, ss109625003, ss113260754, ss117989597, ss167754971, ss169011499, ss171135496, ss202184338, ss207848733, ss255474775, ss282682465, ss287142905, ss292010350, ss1696939948, ss2635068045 NC_000017.9:7511804:A:G NC_000017.11:7667761:A:G (self)
71023824, 39391237, 27861195, 4284473, 17561065, 42059876, 15137477, 18387839, 37306603, 9925147, 79358475, 39391237, 8726137, ss227449828, ss237173857, ss243485856, ss534600711, ss565152363, ss660940261, ss992899160, ss1080914520, ss1357813165, ss1427970269, ss1578079104, ss1635240292, ss1678234325, ss1808692584, ss1936345917, ss1968346958, ss2028961061, ss2157408793, ss2628972654, ss2701951489, ss2947435700, ss2985722788, ss3015157732, ss3351641693, ss3627620193, ss3682122947, ss3741852612, ss3754421708, ss3788143244, ss3793112545, ss3797998175, ss3834767296, ss3840992128, ss3885289623, ss3934882482, ss5221389168, ss5426240972, ss5659676615, ss5833689463, ss5951086840 NC_000017.10:7571079:A:G NC_000017.11:7667761:A:G (self)
93185185, 34732019, 110791080, 244214748, 13117907035, ss2215319139, ss3028299694, ss3650598892, ss3700039657, ss3819691710, ss3846486524, ss3978354018, ss5028669086, ss5302344403, ss5495527519, ss5605659250, ss5776953976, ss5816315674, ss5851729106, ss5913134213 NC_000017.11:7667761:A:G NC_000017.11:7667761:A:G (self)
ss13732466, ss21398234 NT_010718.14:6412085:A:G NC_000017.11:7667761:A:G (self)
ss24584449, ss32469511, ss40808378, ss48297308, ss106496128, ss136498765, ss136962610, ss157812086 NT_010718.16:7174453:A:G NC_000017.11:7667761:A:G (self)
42059876, ss3934882482 NC_000017.10:7571079:A:T NC_000017.11:7667761: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.

10 citations for rs9894946
PMID Title Author Year Journal
17449902 Genetic variation in TP53 and risk of breast cancer in a population-based case control study. Sprague BL et al. 2007 Carcinogenesis
18640487 Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation. Israni AK et al. 2008 American journal of kidney diseases
19222838 Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. Garritano S et al. 2009 BMC genetics
19276285 Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer. Sehl ME et al. 2009 Clinical cancer research
19276375 Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer. Schildkraut JM et al. 2009 Cancer research
19423538 Common genetic variation in TP53 and risk of human papillomavirus persistence and progression to CIN3/cancer revisited. Koshiol J et al. 2009 Cancer epidemiology, biomarkers & prevention
24218030 Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. O'Brien KM et al. 2014 American journal of epidemiology
28415781 Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype. Carrera-Lasfuentes P et al. 2017 Oncotarget
31762593 The genetic association study of TP53 polymorphisms in Saudi obese patients. Sabir JSM et al. 2019 Saudi journal of biological sciences
32592449 TP53 p.Arg337His geographic distribution correlates with adrenocortical tumor occurrence. Seidinger AL et al. 2020 Molecular genetics & genomic medicine
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.post774+babeb33