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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.

rs747657

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:226363223 (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
G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.437058 (115685/264690, TOPMED)
G=0.421572 (59026/140014, GnomAD)
G=0.37482 (7108/18964, ALFA) (+ 16 more)
C=0.21963 (3681/16760, 8.3KJPN)
C=0.4866 (2437/5008, 1000G)
G=0.3966 (1811/4566, GO-ESP)
G=0.3373 (1511/4480, Estonian)
G=0.3225 (1243/3854, ALSPAC)
G=0.3077 (1141/3708, TWINSUK)
C=0.2287 (670/2930, KOREAN)
C=0.2167 (397/1832, Korea1K)
G=0.361 (360/998, GoNL)
G=0.398 (239/600, NorthernSweden)
G=0.292 (156/534, MGP)
G=0.318 (122/384, SGDP_PRJ)
G=0.361 (78/216, Qatari)
C=0.131 (28/214, Vietnamese)
G=0.38 (15/40, GENOME_DK)
G=0.37 (14/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP1 : Intron Variant
Publications
2 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 1 NC_000001.11:g.226363223G>C
GRCh37.p13 chr 1 NC_000001.10:g.226550924G>C
Gene: PARP1, poly(ADP-ribose) polymerase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PARP1 transcript NM_001618.4:c.2787-63C>G 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

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 18964 G=0.37482 C=0.62518
European Sub 14336 G=0.32673 C=0.67327
African Sub 2960 G=0.5568 C=0.4432
African Others Sub 114 G=0.667 C=0.333
African American Sub 2846 G=0.5524 C=0.4476
Asian Sub 112 G=0.768 C=0.232
East Asian Sub 86 G=0.77 C=0.23
Other Asian Sub 26 G=0.77 C=0.23
Latin American 1 Sub 146 G=0.308 C=0.692
Latin American 2 Sub 610 G=0.525 C=0.475
South Asian Sub 98 G=0.29 C=0.71
Other Sub 702 G=0.423 C=0.577


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=0.437058 C=0.562942
gnomAD - Genomes Global Study-wide 140014 G=0.421572 C=0.578428
gnomAD - Genomes European Sub 75844 G=0.33767 C=0.66233
gnomAD - Genomes African Sub 41946 G=0.54301 C=0.45699
gnomAD - Genomes American Sub 13638 G=0.45168 C=0.54832
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.3062 C=0.6938
gnomAD - Genomes East Asian Sub 3120 G=0.8167 C=0.1833
gnomAD - Genomes Other Sub 2148 G=0.4260 C=0.5740
8.3KJPN JAPANESE Study-wide 16760 G=0.78037 C=0.21963
1000Genomes Global Study-wide 5008 G=0.5134 C=0.4866
1000Genomes African Sub 1322 G=0.5537 C=0.4463
1000Genomes East Asian Sub 1008 G=0.7946 C=0.2054
1000Genomes Europe Sub 1006 G=0.3241 C=0.6759
1000Genomes South Asian Sub 978 G=0.371 C=0.629
1000Genomes American Sub 694 G=0.503 C=0.497
GO Exome Sequencing Project Global Study-wide 4566 G=0.3966 C=0.6034
GO Exome Sequencing Project European American Sub 3182 G=0.3375 C=0.6625
GO Exome Sequencing Project African American Sub 1384 G=0.5325 C=0.4675
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3373 C=0.6627
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3225 C=0.6775
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3077 C=0.6923
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7713 C=0.2287
Korean Genome Project KOREAN Study-wide 1832 G=0.7833 C=0.2167
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.361 C=0.639
Northern Sweden ACPOP Study-wide 600 G=0.398 C=0.602
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.292 C=0.708
SGDP_PRJ Global Study-wide 384 G=0.318 C=0.682
Qatari Global Study-wide 216 G=0.361 C=0.639
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.869 C=0.131
The Danish reference pan genome Danish Study-wide 40 G=0.38 C=0.62
Siberian Global Study-wide 38 G=0.37 C=0.63
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= C
GRCh38.p13 chr 1 NC_000001.11:g.226363223= NC_000001.11:g.226363223G>C
GRCh37.p13 chr 1 NC_000001.10:g.226550924= NC_000001.10:g.226550924G>C
PARP1 transcript NM_001618.3:c.2787-63= NM_001618.3:c.2787-63C>G
PARP1 transcript NM_001618.4:c.2787-63= NM_001618.4:c.2787-63C>G
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#.

84 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss98259 Oct 05, 2000 (86)
2 YUSUKE ss3206111 Sep 28, 2001 (100)
3 EGP_SNPS ss4480553 Jul 03, 2002 (106)
4 TSC-CSHL ss5462028 Oct 08, 2002 (108)
5 SNP500CANCER ss5586205 Mar 31, 2003 (113)
6 BCM_SSAHASNP ss9876105 Jul 11, 2003 (116)
7 CSHL-HAPMAP ss17329657 Feb 27, 2004 (120)
8 CSHL-HAPMAP ss19833924 Feb 27, 2004 (120)
9 SSAHASNP ss20502776 Apr 05, 2004 (121)
10 IMCJ-GDT ss22886563 Apr 05, 2004 (121)
11 PERLEGEN ss23186100 Sep 20, 2004 (123)
12 ABI ss44084089 Mar 15, 2006 (126)
13 EGP_SNPS ss69357633 May 16, 2007 (127)
14 CGM_KYOTO ss76874630 Dec 06, 2007 (129)
15 HGSV ss85243360 Dec 14, 2007 (130)
16 BCMHGSC_JDW ss87993536 Mar 23, 2008 (129)
17 CNG ss95210741 Mar 25, 2008 (129)
18 HUMANGENOME_JCVI ss98008413 Feb 04, 2009 (130)
19 1000GENOMES ss108999388 Jan 23, 2009 (130)
20 1000GENOMES ss111867875 Jan 25, 2009 (130)
21 ENSEMBL ss138165699 Dec 01, 2009 (131)
22 ENSEMBL ss139048799 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss165300086 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss165860002 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss167543383 Jul 04, 2010 (132)
26 BUSHMAN ss199689063 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss205106183 Jul 04, 2010 (132)
28 1000GENOMES ss218916007 Jul 14, 2010 (132)
29 1000GENOMES ss230928827 Jul 14, 2010 (132)
30 1000GENOMES ss238536592 Jul 15, 2010 (132)
31 GMI ss276244122 May 04, 2012 (137)
32 GMI ss284240745 Apr 25, 2013 (138)
33 PJP ss290747231 May 09, 2011 (134)
34 TISHKOFF ss555178786 Apr 25, 2013 (138)
35 SSMP ss648750472 Apr 25, 2013 (138)
36 NHLBI-ESP ss712372460 Apr 25, 2013 (138)
37 EVA-GONL ss976213594 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1068653859 Aug 21, 2014 (142)
39 1000GENOMES ss1294911300 Aug 21, 2014 (142)
40 DDI ss1426131527 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1574721847 Apr 01, 2015 (144)
42 EVA_DECODE ss1585611519 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1602279035 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1645273068 Apr 01, 2015 (144)
45 EVA_MGP ss1710945795 Apr 01, 2015 (144)
46 HAMMER_LAB ss1795818417 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1919435677 Feb 12, 2016 (147)
48 GENOMED ss1966989351 Jul 19, 2016 (147)
49 JJLAB ss2020242288 Sep 14, 2016 (149)
50 USC_VALOUEV ss2148276594 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2170627490 Dec 20, 2016 (150)
52 TOPMED ss2333268459 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2624632421 Nov 08, 2017 (151)
54 ILLUMINA ss2635007936 Nov 08, 2017 (151)
55 GRF ss2698274768 Nov 08, 2017 (151)
56 GNOMAD ss2766963594 Nov 08, 2017 (151)
57 SWEGEN ss2988559334 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3023881542 Nov 08, 2017 (151)
59 TOPMED ss3105109801 Nov 08, 2017 (151)
60 CSHL ss3343942954 Nov 08, 2017 (151)
61 OMUKHERJEE_ADBS ss3646254251 Oct 11, 2018 (152)
62 URBANLAB ss3646901711 Oct 11, 2018 (152)
63 EGCUT_WGS ss3656518238 Jul 12, 2019 (153)
64 EVA_DECODE ss3688758271 Jul 12, 2019 (153)
65 ACPOP ss3727919962 Jul 12, 2019 (153)
66 EVA ss3747417208 Jul 12, 2019 (153)
67 PACBIO ss3783705849 Jul 12, 2019 (153)
68 PACBIO ss3789315032 Jul 12, 2019 (153)
69 PACBIO ss3794187452 Jul 12, 2019 (153)
70 KHV_HUMAN_GENOMES ss3800420048 Jul 12, 2019 (153)
71 EVA ss3823721536 Apr 25, 2020 (154)
72 EVA ss3825589439 Apr 25, 2020 (154)
73 EVA ss3826678034 Apr 25, 2020 (154)
74 EVA ss3836741060 Apr 25, 2020 (154)
75 EVA ss3842153319 Apr 25, 2020 (154)
76 SGDP_PRJ ss3851034495 Apr 25, 2020 (154)
77 KRGDB ss3896371159 Apr 25, 2020 (154)
78 KOGIC ss3946626425 Apr 25, 2020 (154)
79 FSA-LAB ss3983965118 Apr 25, 2021 (155)
80 FSA-LAB ss3983965119 Apr 25, 2021 (155)
81 EVA ss3986161415 Apr 25, 2021 (155)
82 TOPMED ss4485890249 Apr 25, 2021 (155)
83 TOMMO_GENOMICS ss5148734452 Apr 25, 2021 (155)
84 EVA ss5237166666 Apr 25, 2021 (155)
85 1000Genomes NC_000001.10 - 226550924 Oct 11, 2018 (152)
86 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 226550924 Oct 11, 2018 (152)
87 Genetic variation in the Estonian population NC_000001.10 - 226550924 Oct 11, 2018 (152)
88 The Danish reference pan genome NC_000001.10 - 226550924 Apr 25, 2020 (154)
89 gnomAD - Genomes NC_000001.11 - 226363223 Apr 25, 2021 (155)
90 GO Exome Sequencing Project NC_000001.10 - 226550924 Oct 11, 2018 (152)
91 Genome of the Netherlands Release 5 NC_000001.10 - 226550924 Apr 25, 2020 (154)
92 KOREAN population from KRGDB NC_000001.10 - 226550924 Apr 25, 2020 (154)
93 Korean Genome Project NC_000001.11 - 226363223 Apr 25, 2020 (154)
94 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 226550924 Apr 25, 2020 (154)
95 Northern Sweden NC_000001.10 - 226550924 Jul 12, 2019 (153)
96 Qatari NC_000001.10 - 226550924 Apr 25, 2020 (154)
97 SGDP_PRJ NC_000001.10 - 226550924 Apr 25, 2020 (154)
98 Siberian NC_000001.10 - 226550924 Apr 25, 2020 (154)
99 8.3KJPN NC_000001.10 - 226550924 Apr 25, 2021 (155)
100 TopMed NC_000001.11 - 226363223 Apr 25, 2021 (155)
101 UK 10K study - Twins NC_000001.10 - 226550924 Oct 11, 2018 (152)
102 A Vietnamese Genetic Variation Database NC_000001.10 - 226550924 Jul 12, 2019 (153)
103 ALFA NC_000001.11 - 226363223 Apr 25, 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)
rs57295601 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85243360 NC_000001.8:222857658:G:C NC_000001.11:226363222:G:C (self)
ss87993536, ss108999388, ss111867875, ss165300086, ss165860002, ss167543383, ss199689063, ss205106183, ss276244122, ss284240745, ss290747231, ss1585611519, ss2635007936 NC_000001.9:224617546:G:C NC_000001.11:226363222:G:C (self)
5775370, 3191917, 2256486, 1913115, 180045, 1394912, 3548553, 62547, 1204827, 1477607, 3051475, 792948, 6703759, 3191917, 693220, ss218916007, ss230928827, ss238536592, ss555178786, ss648750472, ss712372460, ss976213594, ss1068653859, ss1294911300, ss1426131527, ss1574721847, ss1602279035, ss1645273068, ss1710945795, ss1795818417, ss1919435677, ss1966989351, ss2020242288, ss2148276594, ss2333268459, ss2624632421, ss2698274768, ss2766963594, ss2988559334, ss3343942954, ss3646254251, ss3656518238, ss3727919962, ss3747417208, ss3783705849, ss3789315032, ss3794187452, ss3823721536, ss3825589439, ss3826678034, ss3836741060, ss3851034495, ss3896371159, ss3983965118, ss3983965119, ss3986161415, ss5148734452 NC_000001.10:226550923:G:C NC_000001.11:226363222:G:C (self)
41481593, 3004426, 31104796, 49496584, 4262957455, ss2170627490, ss3023881542, ss3105109801, ss3646901711, ss3688758271, ss3800420048, ss3842153319, ss3946626425, ss4485890249, ss5237166666 NC_000001.11:226363222:G:C NC_000001.11:226363222:G:C (self)
ss9876105 NT_004559.10:64241:G:C NC_000001.11:226363222:G:C (self)
ss17329657, ss19833924, ss20502776 NT_004559.11:2727117:G:C NC_000001.11:226363222:G:C (self)
ss98259, ss3206111, ss4480553, ss5462028, ss5586205, ss22886563, ss23186100, ss44084089, ss69357633, ss76874630, ss95210741, ss98008413, ss138165699, ss139048799 NT_167186.1:20068702:G:C NC_000001.11:226363222:G:C (self)
Help

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

2 citations for rs747657
PMID Title Author Year Journal
20981448 A novel survival multifactor dimensionality reduction method for detecting gene-gene interactions with application to bladder cancer prognosis. Gui J et al. 2011 Human genetics
32757651 Poly(ADP-Ribose) Polymerase Activity and Coronary Artery Disease in Type 2 Diabetes Mellitus: An Observational and Bidirectional Mendelian Randomization Study. Cui NH et al. 2020 Arteriosclerosis, thrombosis, and vascular biology
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