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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.

rs1625895

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr17:7674797 (GRCh38.p13) 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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.172088 (45550/264690, TOPMED)
T=0.138822 (33535/241568, ALFA)
T=0.17568 (13826/78700, PAGE_STUDY) (+ 18 more)
T=0.02100 (352/16760, 8.3KJPN)
T=0.1663 (833/5008, 1000G)
T=0.1196 (536/4480, Estonian)
T=0.1256 (484/3854, ALSPAC)
T=0.1222 (453/3708, TWINSUK)
T=0.0314 (92/2930, KOREAN)
T=0.1982 (375/1892, HapMap)
T=0.0344 (63/1832, Korea1K)
T=0.121 (121/998, GoNL)
T=0.051 (40/790, PRJEB37584)
T=0.180 (108/600, NorthernSweden)
T=0.152 (81/534, MGP)
T=0.098 (52/532, SGDP_PRJ)
T=0.352 (76/216, Qatari)
T=0.014 (3/212, Vietnamese)
T=0.27 (16/60, Ancient Sardinia)
T=0.07 (4/56, Siberian)
T=0.03 (1/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TP53 : Intron Variant
Publications
37 citations
Genomic View
See rs on genome
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.p13 chr 17 NC_000017.11:g.7674797T>A
GRCh38.p13 chr 17 NC_000017.11:g.7674797T>C
GRCh38.p13 chr 17 NC_000017.11:g.7674797T>G
GRCh37.p13 chr 17 NC_000017.10:g.7578115T>A
GRCh37.p13 chr 17 NC_000017.10:g.7578115T>C
GRCh37.p13 chr 17 NC_000017.10:g.7578115T>G
TP53 RefSeqGene (LRG_321) NG_017013.2:g.17754A>T
TP53 RefSeqGene (LRG_321) NG_017013.2:g.17754A>G
TP53 RefSeqGene (LRG_321) NG_017013.2:g.17754A>C
Gene: TP53, tumor protein p53 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TP53 transcript variant 1 NM_000546.6:c.672+62A>T N/A Intron Variant
TP53 transcript variant 2 NM_001126112.3:c.672+62A>T N/A Intron Variant
TP53 transcript variant 4 NM_001126113.3:c.672+62A>T N/A Intron Variant
TP53 transcript variant 3 NM_001126114.3:c.672+62A>T N/A Intron Variant
TP53 transcript variant 5 NM_001126115.2:c.276+62A>T N/A Intron Variant
TP53 transcript variant 6 NM_001126116.2:c.276+62A>T N/A Intron Variant
TP53 transcript variant 7 NM_001126117.2:c.276+62A>T N/A Intron Variant
TP53 transcript variant 8 NM_001126118.2:c.555+62A>T N/A Intron Variant
TP53 transcript variant 4 NM_001276695.3:c.555+62A>T N/A Intron Variant
TP53 transcript variant 3 NM_001276696.3:c.555+62A>T N/A Intron Variant
TP53 transcript variant 5 NM_001276697.3:c.195+62A>T N/A Intron Variant
TP53 transcript variant 6 NM_001276698.3:c.195+62A>T N/A Intron Variant
TP53 transcript variant 7 NM_001276699.3:c.195+62A>T N/A Intron Variant
TP53 transcript variant 1 NM_001276760.3:c.555+62A>T N/A Intron Variant
TP53 transcript variant 2 NM_001276761.3:c.555+62A>T 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.

Allele: C (allele ID: 256462 )
ClinVar Accession Disease Names Clinical Significance
RCV000242317.2 not specified Benign

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 241568 T=0.138822 A=0.000000, C=0.861178
European Sub 218956 T=0.135265 A=0.000000, C=0.864735
African Sub 5554 T=0.3072 A=0.0000, C=0.6928
African Others Sub 204 T=0.373 A=0.000, C=0.627
African American Sub 5350 T=0.3047 A=0.0000, C=0.6953
Asian Sub 3794 T=0.0295 A=0.0000, C=0.9705
East Asian Sub 3058 T=0.0350 A=0.0000, C=0.9650
Other Asian Sub 736 T=0.007 A=0.000, C=0.993
Latin American 1 Sub 842 T=0.203 A=0.000, C=0.797
Latin American 2 Sub 1978 T=0.1021 A=0.0000, C=0.8979
South Asian Sub 276 T=0.257 A=0.000, C=0.743
Other Sub 10168 T=0.16286 A=0.00000, C=0.83714


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 T=0.172088 C=0.827912
The PAGE Study Global Study-wide 78700 T=0.17568 C=0.82432
The PAGE Study AfricanAmerican Sub 32514 T=0.27656 C=0.72344
The PAGE Study Mexican Sub 10810 T=0.07882 C=0.92118
The PAGE Study Asian Sub 8318 T=0.0226 C=0.9774
The PAGE Study PuertoRican Sub 7918 T=0.1660 C=0.8340
The PAGE Study NativeHawaiian Sub 4534 T=0.0481 C=0.9519
The PAGE Study Cuban Sub 4230 T=0.1544 C=0.8456
The PAGE Study Dominican Sub 3828 T=0.2126 C=0.7874
The PAGE Study CentralAmerican Sub 2450 T=0.1057 C=0.8943
The PAGE Study SouthAmerican Sub 1982 T=0.1034 C=0.8966
The PAGE Study NativeAmerican Sub 1260 T=0.1357 C=0.8643
The PAGE Study SouthAsian Sub 856 T=0.187 C=0.813
8.3KJPN JAPANESE Study-wide 16760 T=0.02100 C=0.97900
1000Genomes Global Study-wide 5008 T=0.1663 C=0.8337
1000Genomes African Sub 1322 T=0.3154 C=0.6846
1000Genomes East Asian Sub 1008 T=0.0238 C=0.9762
1000Genomes Europe Sub 1006 T=0.1431 C=0.8569
1000Genomes South Asian Sub 978 T=0.189 C=0.811
1000Genomes American Sub 694 T=0.091 C=0.909
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.1196 C=0.8804
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.1256 C=0.8744
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.1222 C=0.8778
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.0314 A=0.0000, C=0.9683, G=0.0003
HapMap Global Study-wide 1892 T=0.1982 C=0.8018
HapMap American Sub 770 T=0.127 C=0.873
HapMap African Sub 692 T=0.355 C=0.645
HapMap Asian Sub 254 T=0.016 C=0.984
HapMap Europe Sub 176 T=0.153 C=0.847
Korean Genome Project KOREAN Study-wide 1832 T=0.0344 C=0.9656
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.121 C=0.879
CNV burdens in cranial meningiomas Global Study-wide 790 T=0.051 C=0.949
CNV burdens in cranial meningiomas CRM Sub 790 T=0.051 C=0.949
Northern Sweden ACPOP Study-wide 600 T=0.180 C=0.820
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.152 C=0.848
SGDP_PRJ Global Study-wide 532 T=0.098 C=0.902
Qatari Global Study-wide 216 T=0.352 C=0.648
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.014 C=0.986
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 T=0.27 C=0.73
Siberian Global Study-wide 56 T=0.07 C=0.93
The Danish reference pan genome Danish Study-wide 40 T=0.03 C=0.97
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 T= A C G
GRCh38.p13 chr 17 NC_000017.11:g.7674797= NC_000017.11:g.7674797T>A NC_000017.11:g.7674797T>C NC_000017.11:g.7674797T>G
GRCh37.p13 chr 17 NC_000017.10:g.7578115= NC_000017.10:g.7578115T>A NC_000017.10:g.7578115T>C NC_000017.10:g.7578115T>G
TP53 RefSeqGene (LRG_321) NG_017013.2:g.17754= NG_017013.2:g.17754A>T NG_017013.2:g.17754A>G NG_017013.2:g.17754A>C
TP53 transcript variant 1 NM_000546.5:c.672+62= NM_000546.5:c.672+62A>T NM_000546.5:c.672+62A>G NM_000546.5:c.672+62A>C
TP53 transcript variant 1 NM_000546.6:c.672+62= NM_000546.6:c.672+62A>T NM_000546.6:c.672+62A>G NM_000546.6:c.672+62A>C
TP53 transcript variant 2 NM_001126112.2:c.672+62= NM_001126112.2:c.672+62A>T NM_001126112.2:c.672+62A>G NM_001126112.2:c.672+62A>C
TP53 transcript variant 2 NM_001126112.3:c.672+62= NM_001126112.3:c.672+62A>T NM_001126112.3:c.672+62A>G NM_001126112.3:c.672+62A>C
TP53 transcript variant 4 NM_001126113.2:c.672+62= NM_001126113.2:c.672+62A>T NM_001126113.2:c.672+62A>G NM_001126113.2:c.672+62A>C
TP53 transcript variant 4 NM_001126113.3:c.672+62= NM_001126113.3:c.672+62A>T NM_001126113.3:c.672+62A>G NM_001126113.3:c.672+62A>C
TP53 transcript variant 3 NM_001126114.2:c.672+62= NM_001126114.2:c.672+62A>T NM_001126114.2:c.672+62A>G NM_001126114.2:c.672+62A>C
TP53 transcript variant 3 NM_001126114.3:c.672+62= NM_001126114.3:c.672+62A>T NM_001126114.3:c.672+62A>G NM_001126114.3:c.672+62A>C
TP53 transcript variant 5 NM_001126115.1:c.276+62= NM_001126115.1:c.276+62A>T NM_001126115.1:c.276+62A>G NM_001126115.1:c.276+62A>C
TP53 transcript variant 5 NM_001126115.2:c.276+62= NM_001126115.2:c.276+62A>T NM_001126115.2:c.276+62A>G NM_001126115.2:c.276+62A>C
TP53 transcript variant 6 NM_001126116.1:c.276+62= NM_001126116.1:c.276+62A>T NM_001126116.1:c.276+62A>G NM_001126116.1:c.276+62A>C
TP53 transcript variant 6 NM_001126116.2:c.276+62= NM_001126116.2:c.276+62A>T NM_001126116.2:c.276+62A>G NM_001126116.2:c.276+62A>C
TP53 transcript variant 7 NM_001126117.1:c.276+62= NM_001126117.1:c.276+62A>T NM_001126117.1:c.276+62A>G NM_001126117.1:c.276+62A>C
TP53 transcript variant 7 NM_001126117.2:c.276+62= NM_001126117.2:c.276+62A>T NM_001126117.2:c.276+62A>G NM_001126117.2:c.276+62A>C
TP53 transcript variant 8 NM_001126118.1:c.555+62= NM_001126118.1:c.555+62A>T NM_001126118.1:c.555+62A>G NM_001126118.1:c.555+62A>C
TP53 transcript variant 8 NM_001126118.2:c.555+62= NM_001126118.2:c.555+62A>T NM_001126118.2:c.555+62A>G NM_001126118.2:c.555+62A>C
TP53 transcript variant 4 NM_001276695.1:c.555+62= NM_001276695.1:c.555+62A>T NM_001276695.1:c.555+62A>G NM_001276695.1:c.555+62A>C
TP53 transcript variant 4 NM_001276695.3:c.555+62= NM_001276695.3:c.555+62A>T NM_001276695.3:c.555+62A>G NM_001276695.3:c.555+62A>C
TP53 transcript variant 3 NM_001276696.1:c.555+62= NM_001276696.1:c.555+62A>T NM_001276696.1:c.555+62A>G NM_001276696.1:c.555+62A>C
TP53 transcript variant 3 NM_001276696.3:c.555+62= NM_001276696.3:c.555+62A>T NM_001276696.3:c.555+62A>G NM_001276696.3:c.555+62A>C
TP53 transcript variant 5 NM_001276697.1:c.195+62= NM_001276697.1:c.195+62A>T NM_001276697.1:c.195+62A>G NM_001276697.1:c.195+62A>C
TP53 transcript variant 5 NM_001276697.3:c.195+62= NM_001276697.3:c.195+62A>T NM_001276697.3:c.195+62A>G NM_001276697.3:c.195+62A>C
TP53 transcript variant 6 NM_001276698.1:c.195+62= NM_001276698.1:c.195+62A>T NM_001276698.1:c.195+62A>G NM_001276698.1:c.195+62A>C
TP53 transcript variant 6 NM_001276698.3:c.195+62= NM_001276698.3:c.195+62A>T NM_001276698.3:c.195+62A>G NM_001276698.3:c.195+62A>C
TP53 transcript variant 7 NM_001276699.1:c.195+62= NM_001276699.1:c.195+62A>T NM_001276699.1:c.195+62A>G NM_001276699.1:c.195+62A>C
TP53 transcript variant 7 NM_001276699.3:c.195+62= NM_001276699.3:c.195+62A>T NM_001276699.3:c.195+62A>G NM_001276699.3:c.195+62A>C
TP53 transcript variant 1 NM_001276760.1:c.555+62= NM_001276760.1:c.555+62A>T NM_001276760.1:c.555+62A>G NM_001276760.1:c.555+62A>C
TP53 transcript variant 1 NM_001276760.3:c.555+62= NM_001276760.3:c.555+62A>T NM_001276760.3:c.555+62A>G NM_001276760.3:c.555+62A>C
TP53 transcript variant 2 NM_001276761.1:c.555+62= NM_001276761.1:c.555+62A>T NM_001276761.1:c.555+62A>G NM_001276761.1:c.555+62A>C
TP53 transcript variant 2 NM_001276761.3:c.555+62= NM_001276761.3:c.555+62A>T NM_001276761.3:c.555+62A>G NM_001276761.3:c.555+62A>C
TP53 transcript variant X1 XM_005256778.1:c.612+62= XM_005256778.1:c.612+62A>T XM_005256778.1:c.612+62A>G XM_005256778.1:c.612+62A>C
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#.

127 SubSNP, 28 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss2442720 Nov 09, 2000 (89)
2 WI_SSAHASNP ss12407376 Jul 11, 2003 (116)
3 SNP500CANCER ss12675668 Feb 05, 2009 (130)
4 CSHL-HAPMAP ss16736513 Feb 27, 2004 (120)
5 SSAHASNP ss21423514 Apr 05, 2004 (121)
6 EGP_SNPS ss32469473 Dec 02, 2004 (126)
7 ABI ss44028765 Mar 11, 2006 (126)
8 EGP_SNPS ss66856878 Nov 30, 2006 (127)
9 PERLEGEN ss69190643 May 17, 2007 (127)
10 ILLUMINA ss75032763 Dec 06, 2007 (129)
11 CGM_KYOTO ss76864484 Dec 06, 2007 (129)
12 HGSV ss85758644 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss90524411 Mar 24, 2008 (129)
14 HUMANGENOME_JCVI ss96533352 Feb 05, 2009 (130)
15 BGI ss106496129 Feb 05, 2009 (130)
16 1000GENOMES ss109625015 Jan 24, 2009 (130)
17 1000GENOMES ss113260809 Jan 25, 2009 (130)
18 ILLUMINA-UK ss117989610 Feb 14, 2009 (130)
19 KRIBB_YJKIM ss119400557 Dec 01, 2009 (131)
20 ENSEMBL ss136498743 Dec 01, 2009 (131)
21 ENSEMBL ss136962622 Dec 01, 2009 (131)
22 GMI ss157812141 Dec 01, 2009 (131)
23 ILLUMINA ss160379564 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167755063 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss169011622 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss171135517 Jul 04, 2010 (132)
27 ILLUMINA ss172604781 Jul 04, 2010 (132)
28 BUSHMAN ss202184392 Jul 04, 2010 (132)
29 BCM-HGSC-SUB ss207944581 Jul 04, 2010 (132)
30 1000GENOMES ss227449842 Jul 14, 2010 (132)
31 1000GENOMES ss237173871 Jul 15, 2010 (132)
32 1000GENOMES ss243485866 Jul 15, 2010 (132)
33 BL ss255474785 May 09, 2011 (134)
34 GMI ss282682482 May 04, 2012 (137)
35 GMI ss287142910 Apr 25, 2013 (138)
36 PJP ss292010365 May 09, 2011 (134)
37 ILLUMINA ss480055090 May 04, 2012 (137)
38 ILLUMINA ss480063737 May 04, 2012 (137)
39 ILLUMINA ss480735551 Sep 08, 2015 (146)
40 ILLUMINA ss484825475 May 04, 2012 (137)
41 ILLUMINA ss536902323 Sep 08, 2015 (146)
42 TISHKOFF ss565152385 Apr 25, 2013 (138)
43 SSMP ss660940291 Apr 25, 2013 (138)
44 ILLUMINA ss778815432 Sep 08, 2015 (146)
45 ILLUMINA ss782859298 Sep 08, 2015 (146)
46 ILLUMINA ss783823679 Sep 08, 2015 (146)
47 ILLUMINA ss832113302 Sep 08, 2015 (146)
48 ILLUMINA ss834275733 Sep 08, 2015 (146)
49 EVA-GONL ss992899205 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1080914554 Aug 21, 2014 (142)
51 1000GENOMES ss1357813351 Aug 21, 2014 (142)
52 DDI ss1427970279 Apr 01, 2015 (144)
53 EVA_GENOME_DK ss1578079117 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1635240381 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1678234414 Apr 01, 2015 (144)
56 EVA_EXAC ss1692579766 Apr 01, 2015 (144)
57 EVA_EXAC ss1692579767 Apr 01, 2015 (144)
58 EVA_DECODE ss1696940004 Apr 01, 2015 (144)
59 EVA_MGP ss1711447003 Apr 01, 2015 (144)
60 EVA_SVP ss1713568237 Apr 01, 2015 (144)
61 ILLUMINA ss1752241671 Sep 08, 2015 (146)
62 HAMMER_LAB ss1808692605 Sep 08, 2015 (146)
63 WEILL_CORNELL_DGM ss1936345965 Feb 12, 2016 (147)
64 ILLUMINA ss1946427492 Feb 12, 2016 (147)
65 ILLUMINA ss1959721326 Feb 12, 2016 (147)
66 GENOMED ss1966658560 Feb 12, 2016 (147)
67 JJLAB ss2028961081 Sep 14, 2016 (149)
68 USC_VALOUEV ss2157408821 Dec 20, 2016 (150)
69 HUMAN_LONGEVITY ss2215319587 Dec 20, 2016 (150)
70 TOPMED ss2380167891 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2628972665 Nov 08, 2017 (151)
72 ILLUMINA ss2633372552 Nov 08, 2017 (151)
73 GRF ss2701951516 Nov 08, 2017 (151)
74 ILLUMINA ss2710843846 Nov 08, 2017 (151)
75 GNOMAD ss2742410356 Nov 08, 2017 (151)
76 GNOMAD ss2749679826 Nov 08, 2017 (151)
77 GNOMAD ss2947436265 Nov 08, 2017 (151)
78 AFFY ss2985722810 Nov 08, 2017 (151)
79 SWEGEN ss3015157820 Nov 08, 2017 (151)
80 ILLUMINA ss3021752296 Nov 08, 2017 (151)
81 BIOINF_KMB_FNS_UNIBA ss3028299703 Nov 08, 2017 (151)
82 TOPMED ss3256688126 Nov 08, 2017 (151)
83 TOPMED ss3256688127 Nov 08, 2017 (151)
84 CSHL ss3351641708 Nov 08, 2017 (151)
85 ILLUMINA ss3625703816 Oct 12, 2018 (152)
86 ILLUMINA ss3627620214 Oct 12, 2018 (152)
87 ILLUMINA ss3631355143 Oct 12, 2018 (152)
88 ILLUMINA ss3633134503 Oct 12, 2018 (152)
89 ILLUMINA ss3633841583 Oct 12, 2018 (152)
90 ILLUMINA ss3634663354 Oct 12, 2018 (152)
91 ILLUMINA ss3635529545 Oct 12, 2018 (152)
92 ILLUMINA ss3636353772 Oct 12, 2018 (152)
93 ILLUMINA ss3637281049 Oct 12, 2018 (152)
94 ILLUMINA ss3638148193 Oct 12, 2018 (152)
95 ILLUMINA ss3640370673 Oct 12, 2018 (152)
96 ILLUMINA ss3643127586 Oct 12, 2018 (152)
97 ILLUMINA ss3644680574 Oct 12, 2018 (152)
98 OMUKHERJEE_ADBS ss3646503354 Oct 12, 2018 (152)
99 URBANLAB ss3650598900 Oct 12, 2018 (152)
100 ILLUMINA ss3652165111 Oct 12, 2018 (152)
101 EGCUT_WGS ss3682123020 Jul 13, 2019 (153)
102 EVA_DECODE ss3700039753 Jul 13, 2019 (153)
103 ILLUMINA ss3725600041 Jul 13, 2019 (153)
104 ACPOP ss3741852652 Jul 13, 2019 (153)
105 ILLUMINA ss3744147018 Jul 13, 2019 (153)
106 ILLUMINA ss3744963698 Jul 13, 2019 (153)
107 EVA ss3754421762 Jul 13, 2019 (153)
108 PAGE_CC ss3771910838 Jul 13, 2019 (153)
109 ILLUMINA ss3772461746 Jul 13, 2019 (153)
110 PACBIO ss3788143251 Jul 13, 2019 (153)
111 PACBIO ss3793112551 Jul 13, 2019 (153)
112 PACBIO ss3797998181 Jul 13, 2019 (153)
113 KHV_HUMAN_GENOMES ss3819691768 Jul 13, 2019 (153)
114 EVA ss3834767320 Apr 27, 2020 (154)
115 EVA ss3840992136 Apr 27, 2020 (154)
116 EVA ss3846486532 Apr 27, 2020 (154)
117 SGDP_PRJ ss3885289720 Apr 27, 2020 (154)
118 KRGDB ss3934882598 Apr 27, 2020 (154)
119 KOGIC ss3978354133 Apr 27, 2020 (154)
120 EVA ss3983901675 Apr 27, 2021 (155)
121 FSA-LAB ss3984106871 Apr 27, 2021 (155)
122 EVA ss3984719665 Apr 27, 2021 (155)
123 EVA ss3985779847 Apr 27, 2021 (155)
124 EVA ss3986711510 Apr 27, 2021 (155)
125 TOPMED ss5028670795 Apr 27, 2021 (155)
126 TOMMO_GENOMICS ss5221389392 Apr 27, 2021 (155)
127 EVA ss5237237454 Apr 27, 2021 (155)
128 1000Genomes NC_000017.10 - 7578115 Oct 12, 2018 (152)
129 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 7578115 Oct 12, 2018 (152)
130 Genetic variation in the Estonian population NC_000017.10 - 7578115 Oct 12, 2018 (152)
131 ExAC

Submission ignored due to conflicting rows:
Row 3007536 (NC_000017.10:7578114:T:T 12390/89300, NC_000017.10:7578114:T:C 76910/89300)
Row 3007537 (NC_000017.10:7578114:T:T 89299/89300, NC_000017.10:7578114:T:G 1/89300)

- Oct 12, 2018 (152)
132 ExAC

Submission ignored due to conflicting rows:
Row 3007536 (NC_000017.10:7578114:T:T 12390/89300, NC_000017.10:7578114:T:C 76910/89300)
Row 3007537 (NC_000017.10:7578114:T:T 89299/89300, NC_000017.10:7578114:T:G 1/89300)

- Oct 12, 2018 (152)
133 The Danish reference pan genome NC_000017.10 - 7578115 Apr 27, 2020 (154)
134 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 500820030 (NC_000017.11:7674796:T:A 1/140120)
Row 500820031 (NC_000017.11:7674796:T:C 115971/140092)

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

Submission ignored due to conflicting rows:
Row 500820030 (NC_000017.11:7674796:T:A 1/140120)
Row 500820031 (NC_000017.11:7674796:T:C 115971/140092)

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

Submission ignored due to conflicting rows:
Row 11708419 (NC_000017.10:7578114:T:T 220648/220650, NC_000017.10:7578114:T:A 2/220650)
Row 11708420 (NC_000017.10:7578114:T:T 30155/220650, NC_000017.10:7578114:T:C 190495/220650)
Row 11708421 (NC_000017.10:7578114:T:T 220649/220650, NC_000017.10:7578114:T:G 1/220650)

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

Submission ignored due to conflicting rows:
Row 11708419 (NC_000017.10:7578114:T:T 220648/220650, NC_000017.10:7578114:T:A 2/220650)
Row 11708420 (NC_000017.10:7578114:T:T 30155/220650, NC_000017.10:7578114:T:C 190495/220650)
Row 11708421 (NC_000017.10:7578114:T:T 220649/220650, NC_000017.10:7578114:T:G 1/220650)

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

Submission ignored due to conflicting rows:
Row 11708419 (NC_000017.10:7578114:T:T 220648/220650, NC_000017.10:7578114:T:A 2/220650)
Row 11708420 (NC_000017.10:7578114:T:T 30155/220650, NC_000017.10:7578114:T:C 190495/220650)
Row 11708421 (NC_000017.10:7578114:T:T 220649/220650, NC_000017.10:7578114:T:G 1/220650)

- Jul 13, 2019 (153)
139 Genome of the Netherlands Release 5 NC_000017.10 - 7578115 Apr 27, 2020 (154)
140 HapMap NC_000017.11 - 7674797 Apr 27, 2020 (154)
141 KOREAN population from KRGDB NC_000017.10 - 7578115 Apr 27, 2020 (154)
142 Korean Genome Project NC_000017.11 - 7674797 Apr 27, 2020 (154)
143 Medical Genome Project healthy controls from Spanish population NC_000017.10 - 7578115 Apr 27, 2020 (154)
144 Northern Sweden NC_000017.10 - 7578115 Jul 13, 2019 (153)
145 The PAGE Study NC_000017.11 - 7674797 Jul 13, 2019 (153)
146 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000017.10 - 7578115 Apr 27, 2021 (155)
147 CNV burdens in cranial meningiomas NC_000017.10 - 7578115 Apr 27, 2021 (155)
148 Qatari NC_000017.10 - 7578115 Apr 27, 2020 (154)
149 SGDP_PRJ NC_000017.10 - 7578115 Apr 27, 2020 (154)
150 Siberian NC_000017.10 - 7578115 Apr 27, 2020 (154)
151 8.3KJPN NC_000017.10 - 7578115 Apr 27, 2021 (155)
152 TopMed NC_000017.11 - 7674797 Apr 27, 2021 (155)
153 UK 10K study - Twins NC_000017.10 - 7578115 Oct 12, 2018 (152)
154 A Vietnamese Genetic Variation Database NC_000017.10 - 7578115 Jul 13, 2019 (153)
155 ALFA NC_000017.11 - 7674797 Apr 27, 2021 (155)
156 ClinVar RCV000242317.2 Apr 27, 2020 (154)
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)
rs17883831 Mar 11, 2006 (126)
rs59257978 May 25, 2008 (130)
rs386539980 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
42059992, ss2742410356, ss3934882598 NC_000017.10:7578114:T:A NC_000017.11:7674796:T:A (self)
8722294382, ss3256688126 NC_000017.11:7674796:T:A NC_000017.11:7674796:T:A (self)
ss85758644, ss90524411, ss109625015, ss113260809, ss117989610, ss160379564, ss167755063, ss169011622, ss171135517, ss202184392, ss207944581, ss255474785, ss282682482, ss287142910, ss292010365, ss480055090, ss1696940004, ss1713568237, ss3643127586 NC_000017.9:7518839:T:C NC_000017.11:7674796:T:C (self)
71024014, 39391334, 27861268, 4284486, 17561108, 42059992, 562763, 15137517, 1005774, 269206, 18387887, 37306700, 9925175, 79358699, 39391334, 8726159, ss227449842, ss237173871, ss243485866, ss480063737, ss480735551, ss484825475, ss536902323, ss565152385, ss660940291, ss778815432, ss782859298, ss783823679, ss832113302, ss834275733, ss992899205, ss1080914554, ss1357813351, ss1427970279, ss1578079117, ss1635240381, ss1678234414, ss1692579766, ss1711447003, ss1752241671, ss1808692605, ss1936345965, ss1946427492, ss1959721326, ss1966658560, ss2028961081, ss2157408821, ss2380167891, ss2628972665, ss2633372552, ss2701951516, ss2710843846, ss2742410356, ss2749679826, ss2947436265, ss2985722810, ss3015157820, ss3021752296, ss3351641708, ss3625703816, ss3627620214, ss3631355143, ss3633134503, ss3633841583, ss3634663354, ss3635529545, ss3636353772, ss3637281049, ss3638148193, ss3640370673, ss3644680574, ss3646503354, ss3652165111, ss3682123020, ss3741852652, ss3744147018, ss3744963698, ss3754421762, ss3772461746, ss3788143251, ss3793112551, ss3797998181, ss3834767320, ss3840992136, ss3885289720, ss3934882598, ss3983901675, ss3984106871, ss3984719665, ss3985779847, ss3986711510, ss5221389392 NC_000017.10:7578114:T:C NC_000017.11:7674796:T:C (self)
RCV000242317.2, 1453271, 34732134, 1132307, 152406077, 244216457, 8722294382, ss2215319587, ss3028299703, ss3256688127, ss3650598900, ss3700039753, ss3725600041, ss3771910838, ss3819691768, ss3846486532, ss3978354133, ss5028670795, ss5237237454 NC_000017.11:7674796:T:C NC_000017.11:7674796:T:C (self)
ss12407376 NT_010718.13:6417006:T:C NC_000017.11:7674796:T:C (self)
ss16736513, ss21423514 NT_010718.14:6419120:T:C NC_000017.11:7674796:T:C (self)
ss2442720, ss12675668, ss32469473, ss44028765, ss66856878, ss69190643, ss75032763, ss76864484, ss96533352, ss106496129, ss119400557, ss136498743, ss136962622, ss157812141, ss172604781 NT_010718.16:7181488:T:C NC_000017.11:7674796:T:C (self)
42059992, ss1692579767, ss2742410356, ss3934882598 NC_000017.10:7578114:T:G NC_000017.11:7674796:T:G (self)
Help

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

37 citations for rs1625895
PMID Title Author Year Journal
12466288 Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Bonnen PE et al. 2002 Genome research
16465622 Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. Wu X et al. 2006 American journal of human genetics
17151932 Genetic variation in p53 and ATM haplotypes and risk of glioma and meningioma. Malmer BS et al. 2007 Journal of neuro-oncology
17301252 Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors. Mechanic LE et al. 2007 Cancer epidemiology, biomarkers & prevention
17428325 Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk. Baynes C et al. 2007 Breast cancer research
17449902 Genetic variation in TP53 and risk of breast cancer in a population-based case control study. Sprague BL et al. 2007 Carcinogenesis
17624591 Genetic variation of TP53, polycyclic aromatic hydrocarbon-related exposures, and breast cancer risk among women on Long Island, New York. Gaudet MM et al. 2008 Breast cancer research and treatment
17908995 Genetic variants in cell cycle control pathway confer susceptibility to lung cancer. Wang W et al. 2007 Clinical cancer research
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
18798306 Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population. Pangilinan F et al. 2008 American journal of medical genetics. Part A
18854777 Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy. Wu X et al. 2008 Pharmacogenetics and genomics
19193430 Polymorphisms in TP53 and MDM2 combined are associated with high grade endometrial cancer. Ashton KA et al. 2009 Gynecologic oncology
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
19426493 A case-control study on the combined effects of p53 and p73 polymorphisms on head and neck cancer risk in an Italian population. Gallì P et al. 2009 BMC cancer
19505915 Association of genetic polymorphisms, mRNA expression of p53 and p21 with chronic benzene poisoning in a chinese occupational population. Sun P et al. 2009 Cancer epidemiology, biomarkers & prevention
19826048 Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran. Akbari MR et al. 2009 Cancer research
21402718 Regulation of female reproduction by p53 and its family members. Feng Z et al. 2011 FASEB journal
21810023 Coordination of TP53 abnormalities in breast cancer: data from analysis of TP53 polymorphisms, loss of heterozygosity, methylation, and mutations. Denisov EV et al. 2011 Genetic testing and molecular biomarkers
21838531 Crosstalk between the FGFR2 and TP53 genes in breast cancer: data from an association study and epistatic interaction analysis. Cherdyntseva NV et al. 2012 DNA and cell biology
23029260 p53 codon 72 polymorphism and hematological cancer risk: an update meta-analysis. Weng Y et al. 2012 PloS one
23360829 Association between polymorphisms in the genes for tumor suppressor protein p53 and its regulator NAD(P)H: quinone oxidoreductase 1 (NQO1) and schizophrenia in a Syrian study cohort. Lajin B et al. 2013 Archives of medical research
24818791 Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive analysis. Pineda S et al. 2014 PloS one
25233467 Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma. Tseng TS et al. 2014 PloS one
25340731 Genetic variation in platinating agent and taxane pathway genes as predictors of outcome and toxicity in advanced non-small-cell lung cancer. Lamba JK et al. 2014 Pharmacogenomics
25430047 Prognostic impact of the TP53 rs1625895 polymorphism in DLBCL patients. Voropaeva EN et al. 2015 British journal of haematology
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
27917368 Sex Steroid Hormone Single-Nucleotide Polymorphisms, Pesticide Use, and the Risk of Prostate Cancer: A Nested Case-Control Study within the Agricultural Health Study. Christensen CH et al. 2016 Frontiers in oncology
28415781 Relevance of DNA repair gene polymorphisms to gastric cancer risk and phenotype. Carrera-Lasfuentes P et al. 2017 Oncotarget
29167767 TP53 Gene Polymorphisms and Occupational Skin Cancer Risks for Workers of Glass Fiber Manufacture. Mukhammadiyeva GF et al. 2017 Iranian journal of public health
30048458 Distribution of KRAS, DDR2, and TP53 gene mutations in lung cancer: An analysis of Iranian patients. Fathi Z et al. 2018 PloS one
30796655 Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors. Aceto GM et al. 2019 Breast cancer research and treatment
31205533 Five P53 SNPs Involved in Low Rectal Cancer Risk and Prognosis in a Chinese Population. Zhang G et al. 2019 Journal of Cancer
31624379 [Relationship between p53 rs1625895 polymorphism and prognosis in diffuse large B-cell lymphoma]. Tian Y et al. 2019 Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
31686737 <i>TP53</i> rs1625895 is Related to Breast Cancer Incidence and Early Death in Iranian Population. Assad Samani L et al. 2019 Indian journal of clinical biochemistry
31788124 p53 protein expression affected by TP53 polymorphism is associated with the biological behavior and prognosis of low rectal cancer. Zhang G et al. 2019 Oncology letters
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.post596+ae089ad