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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.

rs1805407

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:226402132 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.240466 (63649/264690, TOPMED)
C=0.235405 (32968/140048, GnomAD)
C=0.28492 (22419/78686, PAGE_STUDY) (+ 18 more)
C=0.18358 (11256/61314, ALFA)
C=0.30746 (5153/16760, 8.3KJPN)
C=0.2626 (1315/5008, 1000G)
C=0.1545 (692/4480, Estonian)
C=0.1640 (632/3854, ALSPAC)
C=0.1607 (596/3708, TWINSUK)
C=0.2891 (847/2930, KOREAN)
C=0.2805 (529/1886, HapMap)
C=0.2909 (533/1832, Korea1K)
C=0.166 (166/998, GoNL)
C=0.130 (78/600, NorthernSweden)
C=0.161 (86/534, MGP)
C=0.164 (50/304, FINRISK)
C=0.185 (40/216, Qatari)
C=0.429 (90/210, Vietnamese)
T=0.417 (85/204, SGDP_PRJ)
C=0.12 (5/40, GENOME_DK)
T=0.39 (11/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP1 : Intron Variant
Publications
1 citation
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.226402132T>A
GRCh38.p13 chr 1 NC_000001.11:g.226402132T>C
GRCh37.p13 chr 1 NC_000001.10:g.226589833T>A
GRCh37.p13 chr 1 NC_000001.10:g.226589833T>C
Gene: PARP1, poly(ADP-ribose) polymerase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PARP1 transcript NM_001618.4:c.286+82A>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.

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 61314 T=0.81642 C=0.18358
European Sub 44776 T=0.83556 C=0.16444
African Sub 4682 T=0.6117 C=0.3883
African Others Sub 134 T=0.500 C=0.500
African American Sub 4548 T=0.6150 C=0.3850
Asian Sub 248 T=0.657 C=0.343
East Asian Sub 162 T=0.660 C=0.340
Other Asian Sub 86 T=0.65 C=0.35
Latin American 1 Sub 644 T=0.767 C=0.233
Latin American 2 Sub 2788 T=0.8691 C=0.1309
South Asian Sub 116 T=0.836 C=0.164
Other Sub 8060 T=0.8194 C=0.1806


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=0.759534 C=0.240466
gnomAD - Genomes Global Study-wide 140048 T=0.764595 C=0.235405
gnomAD - Genomes European Sub 75862 T=0.83235 C=0.16765
gnomAD - Genomes African Sub 41934 T=0.61206 C=0.38794
gnomAD - Genomes American Sub 13654 T=0.85770 C=0.14230
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.8633 C=0.1367
gnomAD - Genomes East Asian Sub 3128 T=0.6512 C=0.3488
gnomAD - Genomes Other Sub 2150 T=0.7702 C=0.2298
The PAGE Study Global Study-wide 78686 T=0.71508 C=0.28492
The PAGE Study AfricanAmerican Sub 32512 T=0.60867 C=0.39133
The PAGE Study Mexican Sub 10806 T=0.86563 C=0.13437
The PAGE Study Asian Sub 8316 T=0.6760 C=0.3240
The PAGE Study PuertoRican Sub 7918 T=0.7861 C=0.2139
The PAGE Study NativeHawaiian Sub 4532 T=0.7952 C=0.2048
The PAGE Study Cuban Sub 4228 T=0.8153 C=0.1847
The PAGE Study Dominican Sub 3828 T=0.7234 C=0.2766
The PAGE Study CentralAmerican Sub 2448 T=0.8460 C=0.1540
The PAGE Study SouthAmerican Sub 1982 T=0.8486 C=0.1514
The PAGE Study NativeAmerican Sub 1260 T=0.8111 C=0.1889
The PAGE Study SouthAsian Sub 856 T=0.798 C=0.202
8.3KJPN JAPANESE Study-wide 16760 T=0.69254 C=0.30746
1000Genomes Global Study-wide 5008 T=0.7374 C=0.2626
1000Genomes African Sub 1322 T=0.5855 C=0.4145
1000Genomes East Asian Sub 1008 T=0.6875 C=0.3125
1000Genomes Europe Sub 1006 T=0.8300 C=0.1700
1000Genomes South Asian Sub 978 T=0.817 C=0.183
1000Genomes American Sub 694 T=0.853 C=0.147
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8455 C=0.1545
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8360 C=0.1640
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8393 C=0.1607
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7109 C=0.2891
HapMap Global Study-wide 1886 T=0.7195 C=0.2805
HapMap American Sub 766 T=0.757 C=0.243
HapMap African Sub 692 T=0.642 C=0.358
HapMap Asian Sub 252 T=0.742 C=0.258
HapMap Europe Sub 176 T=0.830 C=0.170
Korean Genome Project KOREAN Study-wide 1832 T=0.7091 C=0.2909
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.834 C=0.166
Northern Sweden ACPOP Study-wide 600 T=0.870 C=0.130
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.839 C=0.161
FINRISK Finnish from FINRISK project Study-wide 304 T=0.836 C=0.164
Qatari Global Study-wide 216 T=0.815 C=0.185
A Vietnamese Genetic Variation Database Global Study-wide 210 T=0.571 C=0.429
SGDP_PRJ Global Study-wide 204 T=0.417 C=0.583
The Danish reference pan genome Danish Study-wide 40 T=0.88 C=0.12
Siberian Global Study-wide 28 T=0.39 C=0.61
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
GRCh38.p13 chr 1 NC_000001.11:g.226402132= NC_000001.11:g.226402132T>A NC_000001.11:g.226402132T>C
GRCh37.p13 chr 1 NC_000001.10:g.226589833= NC_000001.10:g.226589833T>A NC_000001.10:g.226589833T>C
PARP1 transcript NM_001618.3:c.286+82= NM_001618.3:c.286+82A>T NM_001618.3:c.286+82A>G
PARP1 transcript NM_001618.4:c.286+82= NM_001618.4:c.286+82A>T NM_001618.4:c.286+82A>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#.

79 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 UWGC ss2667852 Jan 12, 2001 (92)
2 HGBASE ss3182322 Aug 15, 2001 (98)
3 EGP_SNPS ss4480398 Jul 03, 2002 (106)
4 YUSUKE ss4924710 Aug 28, 2002 (108)
5 SNP500CANCER ss5586198 Jul 02, 2003 (116)
6 BCM_SSAHASNP ss9814966 Jul 11, 2003 (116)
7 IMCJ-GDT ss22886567 Apr 05, 2004 (121)
8 PERLEGEN ss23858745 Sep 20, 2004 (123)
9 AFFY ss76809491 Dec 07, 2007 (129)
10 CGM_KYOTO ss76877460 Dec 07, 2007 (129)
11 HGSV ss79016178 Dec 07, 2007 (129)
12 CNG ss95212964 Mar 25, 2008 (129)
13 KRIBB_YJKIM ss104853779 Feb 05, 2009 (130)
14 1000GENOMES ss111868418 Jan 25, 2009 (130)
15 ILLUMINA-UK ss119229566 Feb 15, 2009 (130)
16 GMI ss156365119 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss165300892 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss165860295 Jul 04, 2010 (132)
19 BUSHMAN ss199689419 Jul 04, 2010 (132)
20 1000GENOMES ss218916146 Jul 14, 2010 (132)
21 1000GENOMES ss230928931 Jul 14, 2010 (132)
22 1000GENOMES ss238536704 Jul 15, 2010 (132)
23 GMI ss276244221 May 04, 2012 (137)
24 PJP ss290747296 May 09, 2011 (134)
25 CLINSEQ_SNP ss491616398 May 04, 2012 (137)
26 TISHKOFF ss555178983 Apr 25, 2013 (138)
27 SSMP ss648750654 Apr 25, 2013 (138)
28 EVA-GONL ss976213856 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1068654085 Aug 21, 2014 (142)
30 1000GENOMES ss1294912458 Aug 21, 2014 (142)
31 EVA_GENOME_DK ss1574721954 Apr 01, 2015 (144)
32 EVA_FINRISK ss1584015465 Apr 01, 2015 (144)
33 EVA_DECODE ss1585611776 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1602279626 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1645273659 Apr 01, 2015 (144)
36 EVA_EXAC ss1686082594 Apr 01, 2015 (144)
37 EVA_EXAC ss1686082595 Apr 01, 2015 (144)
38 EVA_MGP ss1710945859 Apr 01, 2015 (144)
39 EVA_SVP ss1712410448 Apr 01, 2015 (144)
40 HAMMER_LAB ss1795818746 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1919435898 Feb 12, 2016 (147)
42 ILLUMINA ss1958362759 Feb 12, 2016 (147)
43 JJLAB ss2020242415 Sep 14, 2016 (149)
44 USC_VALOUEV ss2148276737 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2170629878 Dec 20, 2016 (150)
46 TOPMED ss2333270849 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2624632504 Nov 08, 2017 (151)
48 GRF ss2698274941 Nov 08, 2017 (151)
49 GNOMAD ss2732319269 Nov 08, 2017 (151)
50 GNOMAD ss2746575356 Nov 08, 2017 (151)
51 GNOMAD ss2766966658 Nov 08, 2017 (151)
52 AFFY ss2984896164 Nov 08, 2017 (151)
53 SWEGEN ss2988559714 Nov 08, 2017 (151)
54 ILLUMINA ss3021186540 Nov 08, 2017 (151)
55 TOPMED ss3105116919 Nov 08, 2017 (151)
56 CSHL ss3343943064 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3645101421 Oct 11, 2018 (152)
58 OMUKHERJEE_ADBS ss3646254283 Oct 11, 2018 (152)
59 ILLUMINA ss3651532067 Oct 11, 2018 (152)
60 ILLUMINA ss3653666190 Oct 11, 2018 (152)
61 EGCUT_WGS ss3656518681 Jul 12, 2019 (153)
62 EVA_DECODE ss3688758736 Jul 12, 2019 (153)
63 ILLUMINA ss3725111421 Jul 12, 2019 (153)
64 ACPOP ss3727920153 Jul 12, 2019 (153)
65 EVA ss3747417562 Jul 12, 2019 (153)
66 PAGE_CC ss3770876420 Jul 12, 2019 (153)
67 KHV_HUMAN_GENOMES ss3800420398 Jul 12, 2019 (153)
68 EVA ss3825589470 Apr 25, 2020 (154)
69 EVA ss3826678157 Apr 25, 2020 (154)
70 EVA ss3836741146 Apr 25, 2020 (154)
71 EVA ss3842153411 Apr 25, 2020 (154)
72 SGDP_PRJ ss3851034980 Apr 25, 2020 (154)
73 KRGDB ss3896371747 Apr 25, 2020 (154)
74 KOGIC ss3946626981 Apr 25, 2020 (154)
75 FSA-LAB ss3983965176 Apr 25, 2021 (155)
76 EVA ss3986161499 Apr 25, 2021 (155)
77 TOPMED ss4485900289 Apr 25, 2021 (155)
78 TOMMO_GENOMICS ss5148735640 Apr 25, 2021 (155)
79 EVA ss5236879297 Apr 25, 2021 (155)
80 1000Genomes NC_000001.10 - 226589833 Oct 11, 2018 (152)
81 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 226589833 Oct 11, 2018 (152)
82 Genetic variation in the Estonian population NC_000001.10 - 226589833 Oct 11, 2018 (152)
83 ExAC

Submission ignored due to conflicting rows:
Row 5321356 (NC_000001.10:226589832:T:T 72823/95560, NC_000001.10:226589832:T:C 22737/95560)
Row 5321357 (NC_000001.10:226589832:T:T 95559/95560, NC_000001.10:226589832:T:A 1/95560)

- Oct 11, 2018 (152)
84 ExAC

Submission ignored due to conflicting rows:
Row 5321356 (NC_000001.10:226589832:T:T 72823/95560, NC_000001.10:226589832:T:C 22737/95560)
Row 5321357 (NC_000001.10:226589832:T:T 95559/95560, NC_000001.10:226589832:T:A 1/95560)

- Oct 11, 2018 (152)
85 FINRISK NC_000001.10 - 226589833 Apr 25, 2020 (154)
86 The Danish reference pan genome NC_000001.10 - 226589833 Apr 25, 2020 (154)
87 gnomAD - Genomes NC_000001.11 - 226402132 Apr 25, 2021 (155)
88 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1356289 (NC_000001.10:226589832:T:T 244839/244840, NC_000001.10:226589832:T:A 1/244840)
Row 1356290 (NC_000001.10:226589832:T:T 198085/244840, NC_000001.10:226589832:T:C 46755/244840)

- Jul 12, 2019 (153)
89 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1356289 (NC_000001.10:226589832:T:T 244839/244840, NC_000001.10:226589832:T:A 1/244840)
Row 1356290 (NC_000001.10:226589832:T:T 198085/244840, NC_000001.10:226589832:T:C 46755/244840)

- Jul 12, 2019 (153)
90 Genome of the Netherlands Release 5 NC_000001.10 - 226589833 Apr 25, 2020 (154)
91 HapMap NC_000001.11 - 226402132 Apr 25, 2020 (154)
92 KOREAN population from KRGDB NC_000001.10 - 226589833 Apr 25, 2020 (154)
93 Korean Genome Project NC_000001.11 - 226402132 Apr 25, 2020 (154)
94 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 226589833 Apr 25, 2020 (154)
95 Northern Sweden NC_000001.10 - 226589833 Jul 12, 2019 (153)
96 The PAGE Study NC_000001.11 - 226402132 Jul 12, 2019 (153)
97 Qatari NC_000001.10 - 226589833 Apr 25, 2020 (154)
98 SGDP_PRJ NC_000001.10 - 226589833 Apr 25, 2020 (154)
99 Siberian NC_000001.10 - 226589833 Apr 25, 2020 (154)
100 8.3KJPN NC_000001.10 - 226589833 Apr 25, 2021 (155)
101 TopMed NC_000001.11 - 226402132 Apr 25, 2021 (155)
102 UK 10K study - Twins NC_000001.10 - 226589833 Oct 11, 2018 (152)
103 A Vietnamese Genetic Variation Database NC_000001.10 - 226589833 Jul 12, 2019 (153)
104 ALFA NC_000001.11 - 226402132 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)
rs3738710 Oct 09, 2002 (108)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1686082595, ss2732319269 NC_000001.10:226589832:T:A NC_000001.11:226402131:T:A (self)
ss79016178 NC_000001.8:222896567:T:C NC_000001.11:226402131:T:C (self)
ss111868418, ss119229566, ss165300892, ss165860295, ss199689419, ss276244221, ss290747296, ss491616398, ss1585611776, ss1712410448 NC_000001.9:224656455:T:C NC_000001.11:226402131:T:C (self)
5776564, 3192556, 2256929, 11926, 1913215, 1395174, 3549141, 62611, 1205018, 1477828, 3051960, 793091, 6704947, 3192556, 693388, ss218916146, ss230928931, ss238536704, ss555178983, ss648750654, ss976213856, ss1068654085, ss1294912458, ss1574721954, ss1584015465, ss1602279626, ss1645273659, ss1686082594, ss1710945859, ss1795818746, ss1919435898, ss1958362759, ss2020242415, ss2148276737, ss2333270849, ss2624632504, ss2698274941, ss2732319269, ss2746575356, ss2766966658, ss2984896164, ss2988559714, ss3021186540, ss3343943064, ss3646254283, ss3651532067, ss3653666190, ss3656518681, ss3727920153, ss3747417562, ss3825589470, ss3826678157, ss3836741146, ss3851034980, ss3896371747, ss3983965176, ss3986161499, ss5148735640 NC_000001.10:226589832:T:C NC_000001.11:226402131:T:C (self)
41489407, 282217, 3004982, 97889, 31111191, 49506624, 11396818059, ss2170629878, ss3105116919, ss3645101421, ss3688758736, ss3725111421, ss3770876420, ss3800420398, ss3842153411, ss3946626981, ss4485900289, ss5236879297 NC_000001.11:226402131:T:C NC_000001.11:226402131:T:C (self)
ss9814966 NT_004559.10:103150:T:C NC_000001.11:226402131:T:C (self)
ss2667852, ss3182322, ss4480398, ss4924710, ss5586198, ss22886567, ss23858745, ss76809491, ss76877460, ss95212964, ss104853779, ss156365119 NT_167186.1:20107611:T:C NC_000001.11:226402131:T:C (self)
Help

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

1 citation for rs1805407
PMID Title Author Year Journal
30824778 PARP1 rs1805407 Increases Sensitivity to PARP1 Inhibitors in Cancer Cells Suggesting an Improved Therapeutic Strategy. Abecassis I et al. 2019 Scientific reports
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