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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.

rs1136410

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:226367601 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.166981 (61535/368514, ALFA)
G=0.162110 (42909/264690, TOPMED)
G=0.213065 (53567/251412, GnomAD_exome) (+ 25 more)
G=0.153559 (21517/140122, GnomAD)
G=0.201779 (24481/121326, ExAC)
G=0.20302 (15976/78690, PAGE_STUDY)
G=0.40221 (6741/16760, 8.3KJPN)
G=0.12333 (1604/13006, GO-ESP)
G=0.1969 (986/5008, 1000G)
G=0.1824 (817/4480, Estonian)
G=0.1588 (612/3854, ALSPAC)
G=0.1467 (544/3708, TWINSUK)
G=0.4502 (1319/2930, KOREAN)
G=0.2462 (513/2084, HGDP_Stanford)
G=0.1804 (341/1890, HapMap)
G=0.4552 (834/1832, Korea1K)
G=0.192 (192/998, GoNL)
G=0.420 (330/786, PRJEB37584)
G=0.283 (177/626, Chileans)
G=0.438 (269/614, Vietnamese)
G=0.268 (161/600, NorthernSweden)
G=0.118 (63/534, MGP)
G=0.230 (70/304, FINRISK)
A=0.385 (90/234, SGDP_PRJ)
G=0.144 (31/216, Qatari)
G=0.16 (16/98, Ancient Sardinia)
G=0.25 (10/40, GENOME_DK)
A=0.46 (11/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP1 : Missense Variant
Publications
79 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.226367601A>G
GRCh37.p13 chr 1 NC_000001.10:g.226555302A>G
Gene: PARP1, poly(ADP-ribose) polymerase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PARP1 transcript NM_001618.4:c.2285T>C V [GTG] > A [GCG] Coding Sequence Variant
poly [ADP-ribose] polymerase 1 NP_001609.2:p.Val762Ala V (Val) > A (Ala) Missense 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 368514 A=0.833019 G=0.166981
European Sub 309992 A=0.842244 G=0.157756
African Sub 12390 A=0.94956 G=0.05044
African Others Sub 422 A=0.981 G=0.019
African American Sub 11968 A=0.94845 G=0.05155
Asian Sub 6964 A=0.5740 G=0.4260
East Asian Sub 4964 A=0.5687 G=0.4313
Other Asian Sub 2000 A=0.5870 G=0.4130
Latin American 1 Sub 1628 A=0.8520 G=0.1480
Latin American 2 Sub 9354 A=0.6252 G=0.3748
South Asian Sub 5236 A=0.8873 G=0.1127
Other Sub 22950 A=0.79508 G=0.20492


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=0.837890 G=0.162110
gnomAD - Exomes Global Study-wide 251412 A=0.786935 G=0.213065
gnomAD - Exomes European Sub 135350 A=0.822800 G=0.177200
gnomAD - Exomes Asian Sub 49006 A=0.76793 G=0.23207
gnomAD - Exomes American Sub 34582 A=0.57692 G=0.42308
gnomAD - Exomes African Sub 16256 A=0.95134 G=0.04866
gnomAD - Exomes Ashkenazi Jewish Sub 10080 A=0.84038 G=0.15962
gnomAD - Exomes Other Sub 6138 A=0.8079 G=0.1921
gnomAD - Genomes Global Study-wide 140122 A=0.846441 G=0.153559
gnomAD - Genomes European Sub 75874 A=0.83026 G=0.16974
gnomAD - Genomes African Sub 42012 A=0.94592 G=0.05408
gnomAD - Genomes American Sub 13640 A=0.69883 G=0.30117
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.8414 G=0.1586
gnomAD - Genomes East Asian Sub 3126 A=0.5624 G=0.4376
gnomAD - Genomes Other Sub 2148 A=0.8310 G=0.1690
ExAC Global Study-wide 121326 A=0.798221 G=0.201779
ExAC Europe Sub 73326 A=0.82035 G=0.17965
ExAC Asian Sub 25124 A=0.78300 G=0.21700
ExAC American Sub 11562 A=0.55302 G=0.44698
ExAC African Sub 10406 A=0.94926 G=0.05074
ExAC Other Sub 908 A=0.824 G=0.176
The PAGE Study Global Study-wide 78690 A=0.79698 G=0.20302
The PAGE Study AfricanAmerican Sub 32514 A=0.94485 G=0.05515
The PAGE Study Mexican Sub 10808 A=0.61047 G=0.38953
The PAGE Study Asian Sub 8316 A=0.6011 G=0.3989
The PAGE Study PuertoRican Sub 7916 A=0.8012 G=0.1988
The PAGE Study NativeHawaiian Sub 4534 A=0.5251 G=0.4749
The PAGE Study Cuban Sub 4230 A=0.8556 G=0.1444
The PAGE Study Dominican Sub 3828 A=0.8895 G=0.1105
The PAGE Study CentralAmerican Sub 2446 A=0.6398 G=0.3602
The PAGE Study SouthAmerican Sub 1982 A=0.6609 G=0.3391
The PAGE Study NativeAmerican Sub 1260 A=0.7929 G=0.2071
The PAGE Study SouthAsian Sub 856 A=0.905 G=0.095
8.3KJPN JAPANESE Study-wide 16760 A=0.59779 G=0.40221
GO Exome Sequencing Project Global Study-wide 13006 A=0.87667 G=0.12333
GO Exome Sequencing Project European American Sub 8600 A=0.8406 G=0.1594
GO Exome Sequencing Project African American Sub 4406 A=0.9471 G=0.0529
1000Genomes Global Study-wide 5008 A=0.8031 G=0.1969
1000Genomes African Sub 1322 A=0.9629 G=0.0371
1000Genomes East Asian Sub 1008 A=0.5635 G=0.4365
1000Genomes Europe Sub 1006 A=0.8459 G=0.1541
1000Genomes South Asian Sub 978 A=0.900 G=0.100
1000Genomes American Sub 694 A=0.648 G=0.352
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8176 G=0.1824
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8412 G=0.1588
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8533 G=0.1467
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5498 G=0.4502
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.7538 G=0.2462
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.577 G=0.423
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.821 G=0.179
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.889 G=0.111
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.853 G=0.147
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.967 G=0.033
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.412 G=0.588
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.74 G=0.26
HapMap Global Study-wide 1890 A=0.8196 G=0.1804
HapMap American Sub 770 A=0.769 G=0.231
HapMap African Sub 692 A=0.957 G=0.043
HapMap Asian Sub 254 A=0.543 G=0.457
HapMap Europe Sub 174 A=0.902 G=0.098
Korean Genome Project KOREAN Study-wide 1832 A=0.5448 G=0.4552
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.808 G=0.192
CNV burdens in cranial meningiomas Global Study-wide 786 A=0.580 G=0.420
CNV burdens in cranial meningiomas CRM Sub 786 A=0.580 G=0.420
Chileans Chilean Study-wide 626 A=0.717 G=0.283
A Vietnamese Genetic Variation Database Global Study-wide 614 A=0.562 G=0.438
Northern Sweden ACPOP Study-wide 600 A=0.732 G=0.268
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.882 G=0.118
FINRISK Finnish from FINRISK project Study-wide 304 A=0.770 G=0.230
SGDP_PRJ Global Study-wide 234 A=0.385 G=0.615
Qatari Global Study-wide 216 A=0.856 G=0.144
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 98 A=0.84 G=0.16
The Danish reference pan genome Danish Study-wide 40 A=0.75 G=0.25
Siberian Global Study-wide 24 A=0.46 G=0.54
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
GRCh38.p13 chr 1 NC_000001.11:g.226367601= NC_000001.11:g.226367601A>G
GRCh37.p13 chr 1 NC_000001.10:g.226555302= NC_000001.10:g.226555302A>G
PARP1 transcript NM_001618.4:c.2285= NM_001618.4:c.2285T>C
PARP1 transcript NM_001618.3:c.2285= NM_001618.3:c.2285T>C
poly [ADP-ribose] polymerase 1 NP_001609.2:p.Val762= NP_001609.2:p.Val762Ala
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#.

157 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1541103 Oct 13, 2000 (86)
2 UWGC ss2667857 Jan 12, 2001 (102)
3 HGBASE ss3188751 Aug 15, 2001 (102)
4 YUSUKE ss3217971 Sep 28, 2001 (102)
5 LEE ss4428043 May 29, 2002 (126)
6 EGP_SNPS ss4480525 Jul 03, 2002 (106)
7 SNP500CANCER ss5586195 Mar 31, 2003 (113)
8 CGAP-GAI ss16230522 Feb 28, 2004 (126)
9 CSHL-HAPMAP ss16458167 Feb 27, 2004 (120)
10 IMCJ-GDT ss22886557 Apr 05, 2004 (121)
11 PERLEGEN ss23858521 Sep 20, 2004 (123)
12 MGC_GENOME_DIFF ss28508062 Sep 24, 2004 (126)
13 ABI ss43994680 Mar 11, 2006 (126)
14 ILLUMINA ss65725333 Oct 16, 2006 (127)
15 AFFY ss66492044 Dec 02, 2006 (127)
16 ILLUMINA ss66572559 Dec 02, 2006 (127)
17 ILLUMINA ss66930290 Dec 02, 2006 (127)
18 ILLUMINA ss67088056 Dec 02, 2006 (127)
19 PERLEGEN ss68795051 May 18, 2007 (127)
20 EGP_SNPS ss69357630 May 18, 2007 (127)
21 ILLUMINA ss70393577 May 18, 2007 (127)
22 ILLUMINA ss70528273 May 25, 2008 (130)
23 ILLUMINA ss71058551 May 18, 2007 (127)
24 ILLUMINA ss74946984 Dec 07, 2007 (129)
25 AFFY ss76315290 Dec 07, 2007 (129)
26 CGM_KYOTO ss76877475 Dec 07, 2007 (129)
27 HGSV ss78368646 Dec 07, 2007 (129)
28 KRIBB_YJKIM ss83687459 Dec 15, 2007 (130)
29 CORNELL ss86238767 Mar 23, 2008 (129)
30 CNG ss95213502 Mar 25, 2008 (129)
31 BGI ss106636536 Feb 05, 2009 (130)
32 1000GENOMES ss108999412 Jan 23, 2009 (130)
33 ILLUMINA ss121469538 Dec 01, 2009 (131)
34 ILLUMINA ss152983643 Dec 01, 2009 (131)
35 GMI ss156364763 Dec 01, 2009 (131)
36 ILLUMINA ss159174441 Dec 01, 2009 (131)
37 SEATTLESEQ ss159700715 Dec 01, 2009 (131)
38 ILLUMINA ss159977499 Dec 01, 2009 (131)
39 ENSEMBL ss161224185 Dec 01, 2009 (131)
40 COMPLETE_GENOMICS ss167543411 Jul 04, 2010 (132)
41 ILLUMINA ss169853062 Jul 04, 2010 (132)
42 ILLUMINA ss171246456 Jul 04, 2010 (132)
43 AFFY ss173232928 Jul 04, 2010 (132)
44 1000GENOMES ss230928839 Jul 14, 2010 (132)
45 1000GENOMES ss238536609 Jul 15, 2010 (132)
46 ILLUMINA ss244272380 Jul 04, 2010 (132)
47 BL ss253867654 May 09, 2011 (134)
48 GMI ss276244136 May 04, 2012 (137)
49 PJP ss290747240 May 09, 2011 (134)
50 NHLBI-ESP ss342033386 May 09, 2011 (134)
51 ILLUMINA ss410893290 Sep 17, 2011 (135)
52 ILLUMINA ss479518845 May 04, 2012 (137)
53 ILLUMINA ss479522706 May 04, 2012 (137)
54 ILLUMINA ss479975778 Sep 08, 2015 (146)
55 ILLUMINA ss484558566 May 04, 2012 (137)
56 1000GENOMES ss489794744 May 04, 2012 (137)
57 EXOME_CHIP ss491311544 May 04, 2012 (137)
58 CLINSEQ_SNP ss491616354 May 04, 2012 (137)
59 ILLUMINA ss536694038 Sep 08, 2015 (146)
60 SSMP ss648750500 Apr 25, 2013 (138)
61 ILLUMINA ss778758232 Sep 08, 2015 (146)
62 ILLUMINA ss780754036 Aug 21, 2014 (142)
63 ILLUMINA ss782725945 Sep 08, 2015 (146)
64 ILLUMINA ss783432302 Aug 21, 2014 (142)
65 ILLUMINA ss783693337 Sep 08, 2015 (146)
66 ILLUMINA ss825362972 Apr 01, 2015 (144)
67 ILLUMINA ss831977610 Sep 08, 2015 (146)
68 ILLUMINA ss832686969 Jul 12, 2019 (153)
69 ILLUMINA ss834217966 Sep 08, 2015 (146)
70 EVA-GONL ss976213623 Aug 21, 2014 (142)
71 JMKIDD_LAB ss1067432540 Aug 21, 2014 (142)
72 JMKIDD_LAB ss1068653889 Aug 21, 2014 (142)
73 1000GENOMES ss1294911453 Aug 21, 2014 (142)
74 EVA_GENOME_DK ss1574721860 Apr 01, 2015 (144)
75 EVA_FINRISK ss1584015453 Apr 01, 2015 (144)
76 EVA_DECODE ss1585611547 Apr 01, 2015 (144)
77 EVA_UK10K_ALSPAC ss1602279099 Apr 01, 2015 (144)
78 EVA_UK10K_TWINSUK ss1645273132 Apr 01, 2015 (144)
79 EVA_EXAC ss1686081899 Apr 01, 2015 (144)
80 EVA_MGP ss1710945804 Apr 01, 2015 (144)
81 EVA_SVP ss1712410426 Apr 01, 2015 (144)
82 ILLUMINA ss1751902303 Sep 08, 2015 (146)
83 ILLUMINA ss1751902304 Sep 08, 2015 (146)
84 ILLUMINA ss1917743114 Feb 12, 2016 (147)
85 WEILL_CORNELL_DGM ss1919435702 Feb 12, 2016 (147)
86 ILLUMINA ss1946025204 Feb 12, 2016 (147)
87 ILLUMINA ss1958362721 Feb 12, 2016 (147)
88 GENOMED ss1966989357 Jul 19, 2016 (147)
89 JJLAB ss2020242307 Sep 14, 2016 (149)
90 USC_VALOUEV ss2148276616 Dec 20, 2016 (150)
91 HUMAN_LONGEVITY ss2170627743 Dec 20, 2016 (150)
92 TOPMED ss2333268726 Dec 20, 2016 (150)
93 SYSTEMSBIOZJU ss2624632431 Nov 08, 2017 (151)
94 ILLUMINA ss2632637630 Nov 08, 2017 (151)
95 ILLUMINA ss2632637631 Nov 08, 2017 (151)
96 ILLUMINA ss2635007939 Nov 08, 2017 (151)
97 GRF ss2698274793 Nov 08, 2017 (151)
98 GNOMAD ss2732318319 Nov 08, 2017 (151)
99 GNOMAD ss2746575063 Nov 08, 2017 (151)
100 GNOMAD ss2766963905 Nov 08, 2017 (151)
101 AFFY ss2984896142 Nov 08, 2017 (151)
102 SWEGEN ss2988559377 Nov 08, 2017 (151)
103 ILLUMINA ss3021186499 Nov 08, 2017 (151)
104 BIOINF_KMB_FNS_UNIBA ss3023881552 Nov 08, 2017 (151)
105 TOPMED ss3105110601 Nov 08, 2017 (151)
106 CSHL ss3343942970 Nov 08, 2017 (151)
107 ILLUMINA ss3626323354 Oct 11, 2018 (152)
108 ILLUMINA ss3626323355 Oct 11, 2018 (152)
109 ILLUMINA ss3630667033 Oct 11, 2018 (152)
110 ILLUMINA ss3632927907 Oct 11, 2018 (152)
111 ILLUMINA ss3633624043 Oct 11, 2018 (152)
112 ILLUMINA ss3634376170 Oct 11, 2018 (152)
113 ILLUMINA ss3634376171 Oct 11, 2018 (152)
114 ILLUMINA ss3635317096 Oct 11, 2018 (152)
115 ILLUMINA ss3636055049 Oct 11, 2018 (152)
116 ILLUMINA ss3637067645 Oct 11, 2018 (152)
117 ILLUMINA ss3637817913 Oct 11, 2018 (152)
118 ILLUMINA ss3638924079 Oct 11, 2018 (152)
119 ILLUMINA ss3639460976 Oct 11, 2018 (152)
120 ILLUMINA ss3640083523 Oct 11, 2018 (152)
121 ILLUMINA ss3640083524 Oct 11, 2018 (152)
122 ILLUMINA ss3642824001 Oct 11, 2018 (152)
123 ILLUMINA ss3644521201 Oct 11, 2018 (152)
124 OMUKHERJEE_ADBS ss3646254254 Oct 11, 2018 (152)
125 ILLUMINA ss3651532026 Oct 11, 2018 (152)
126 ILLUMINA ss3653666167 Oct 11, 2018 (152)
127 EGCUT_WGS ss3656518282 Jul 12, 2019 (153)
128 EVA_DECODE ss3688758333 Jul 12, 2019 (153)
129 ILLUMINA ss3725111382 Jul 12, 2019 (153)
130 ACPOP ss3727919988 Jul 12, 2019 (153)
131 ILLUMINA ss3744360895 Jul 12, 2019 (153)
132 ILLUMINA ss3744677023 Jul 12, 2019 (153)
133 ILLUMINA ss3744677024 Jul 12, 2019 (153)
134 EVA ss3747417251 Jul 12, 2019 (153)
135 PAGE_CC ss3770876391 Jul 12, 2019 (153)
136 ILLUMINA ss3772177916 Jul 12, 2019 (153)
137 ILLUMINA ss3772177917 Jul 12, 2019 (153)
138 KHV_HUMAN_GENOMES ss3800420092 Jul 12, 2019 (153)
139 EVA ss3823721559 Apr 25, 2020 (154)
140 EVA ss3825589440 Apr 25, 2020 (154)
141 EVA ss3826678055 Apr 25, 2020 (154)
142 EVA ss3836741068 Apr 25, 2020 (154)
143 EVA ss3842153331 Apr 25, 2020 (154)
144 HGDP ss3847365578 Apr 25, 2020 (154)
145 SGDP_PRJ ss3851034552 Apr 25, 2020 (154)
146 KRGDB ss3896371236 Apr 25, 2020 (154)
147 KOGIC ss3946626481 Apr 25, 2020 (154)
148 FSA-LAB ss3983965129 Apr 25, 2021 (155)
149 FSA-LAB ss3983965130 Apr 25, 2021 (155)
150 EVA ss3984473071 Apr 25, 2021 (155)
151 EVA ss3984856049 Apr 25, 2021 (155)
152 EVA ss3986015757 Apr 25, 2021 (155)
153 EVA ss3986161426 Apr 25, 2021 (155)
154 EVA ss4016965773 Apr 25, 2021 (155)
155 TOPMED ss4485891331 Apr 25, 2021 (155)
156 TOMMO_GENOMICS ss5148734580 Apr 25, 2021 (155)
157 EVA ss5236879283 Apr 25, 2021 (155)
158 1000Genomes NC_000001.10 - 226555302 Oct 11, 2018 (152)
159 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 226555302 Oct 11, 2018 (152)
160 Chileans NC_000001.10 - 226555302 Apr 25, 2020 (154)
161 Genetic variation in the Estonian population NC_000001.10 - 226555302 Oct 11, 2018 (152)
162 ExAC NC_000001.10 - 226555302 Oct 11, 2018 (152)
163 FINRISK NC_000001.10 - 226555302 Apr 25, 2020 (154)
164 The Danish reference pan genome NC_000001.10 - 226555302 Apr 25, 2020 (154)
165 gnomAD - Genomes NC_000001.11 - 226367601 Apr 25, 2021 (155)
166 gnomAD - Exomes NC_000001.10 - 226555302 Jul 12, 2019 (153)
167 GO Exome Sequencing Project NC_000001.10 - 226555302 Oct 11, 2018 (152)
168 Genome of the Netherlands Release 5 NC_000001.10 - 226555302 Apr 25, 2020 (154)
169 HGDP-CEPH-db Supplement 1 NC_000001.9 - 224621925 Apr 25, 2020 (154)
170 HapMap NC_000001.11 - 226367601 Apr 25, 2020 (154)
171 KOREAN population from KRGDB NC_000001.10 - 226555302 Apr 25, 2020 (154)
172 Korean Genome Project NC_000001.11 - 226367601 Apr 25, 2020 (154)
173 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 226555302 Apr 25, 2020 (154)
174 Northern Sweden NC_000001.10 - 226555302 Jul 12, 2019 (153)
175 The PAGE Study NC_000001.11 - 226367601 Jul 12, 2019 (153)
176 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 226555302 Apr 25, 2021 (155)
177 CNV burdens in cranial meningiomas NC_000001.10 - 226555302 Apr 25, 2021 (155)
178 Qatari NC_000001.10 - 226555302 Apr 25, 2020 (154)
179 SGDP_PRJ NC_000001.10 - 226555302 Apr 25, 2020 (154)
180 Siberian NC_000001.10 - 226555302 Apr 25, 2020 (154)
181 8.3KJPN NC_000001.10 - 226555302 Apr 25, 2021 (155)
182 TopMed NC_000001.11 - 226367601 Apr 25, 2021 (155)
183 UK 10K study - Twins NC_000001.10 - 226555302 Oct 11, 2018 (152)
184 A Vietnamese Genetic Variation Database NC_000001.10 - 226555302 Jul 12, 2019 (153)
185 ALFA NC_000001.11 - 226367601 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)
rs1805412 Jan 04, 2002 (102)
rs3199701 Mar 11, 2006 (126)
rs11541665 Mar 11, 2006 (126)
rs16845751 Oct 07, 2004 (123)
rs17853760 Mar 11, 2006 (126)
rs59953823 May 25, 2008 (130)
rs117628924 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78368646, ss3638924079, ss3639460976 NC_000001.8:222862036:A:G NC_000001.11:226367600:A:G (self)
43470, ss66492044, ss76315290, ss108999412, ss167543411, ss173232928, ss253867654, ss276244136, ss290747240, ss479518845, ss491616354, ss825362972, ss1585611547, ss1712410426, ss2635007939, ss3642824001, ss3847365578 NC_000001.9:224621924:A:G NC_000001.11:226367600:A:G (self)
5775527, 3191986, 34730, 2256530, 5320622, 11914, 1913128, 1355239, 180068, 1394941, 3548630, 62556, 1204853, 81976, 22392, 1477632, 3051532, 792970, 6703887, 3191986, 693238, ss230928839, ss238536609, ss342033386, ss479522706, ss479975778, ss484558566, ss489794744, ss491311544, ss536694038, ss648750500, ss778758232, ss780754036, ss782725945, ss783432302, ss783693337, ss831977610, ss832686969, ss834217966, ss976213623, ss1067432540, ss1068653889, ss1294911453, ss1574721860, ss1584015453, ss1602279099, ss1645273132, ss1686081899, ss1710945804, ss1751902303, ss1751902304, ss1917743114, ss1919435702, ss1946025204, ss1958362721, ss1966989357, ss2020242307, ss2148276616, ss2333268726, ss2624632431, ss2632637630, ss2632637631, ss2698274793, ss2732318319, ss2746575063, ss2766963905, ss2984896142, ss2988559377, ss3021186499, ss3343942970, ss3626323354, ss3626323355, ss3630667033, ss3632927907, ss3633624043, ss3634376170, ss3634376171, ss3635317096, ss3636055049, ss3637067645, ss3637817913, ss3640083523, ss3640083524, ss3644521201, ss3646254254, ss3651532026, ss3653666167, ss3656518282, ss3727919988, ss3744360895, ss3744677023, ss3744677024, ss3747417251, ss3772177916, ss3772177917, ss3823721559, ss3825589440, ss3826678055, ss3836741068, ss3851034552, ss3896371236, ss3983965129, ss3983965130, ss3984473071, ss3984856049, ss3986015757, ss3986161426, ss4016965773, ss5148734580 NC_000001.10:226555301:A:G NC_000001.11:226367600:A:G (self)
41482450, 282106, 3004482, 97860, 31105488, 49497666, 5353773645, ss2170627743, ss3023881552, ss3105110601, ss3688758333, ss3725111382, ss3770876391, ss3800420092, ss3842153331, ss3946626481, ss4485891331, ss5236879283 NC_000001.11:226367600:A:G NC_000001.11:226367600:A:G (self)
ss16458167 NT_004559.11:2731495:A:G NC_000001.11:226367600:A:G (self)
ss1541103, ss2667857, ss3188751, ss3217971, ss4428043, ss4480525, ss5586195, ss16230522, ss22886557, ss23858521, ss28508062, ss43994680, ss65725333, ss66572559, ss66930290, ss67088056, ss68795051, ss69357630, ss70393577, ss70528273, ss71058551, ss74946984, ss76877475, ss83687459, ss86238767, ss95213502, ss106636536, ss121469538, ss152983643, ss156364763, ss159174441, ss159700715, ss159977499, ss161224185, ss169853062, ss171246456, ss244272380, ss410893290 NT_167186.1:20073080:A:G NC_000001.11:226367600:A:G (self)
Help

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

79 citations for rs1136410
PMID Title Author Year Journal
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
16857995 Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes. Hill DA et al. 2006 Blood
17203305 Genetic variation in the base excision repair pathway and bladder cancer risk. Figueroa JD et al. 2007 Human genetics
17220334 High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility. Huang M et al. 2007 Cancer epidemiology, biomarkers & prevention
17267408 Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells. Milani L et al. 2007 Nucleic acids research
18191955 Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. Zhu Y et al. 2008 Mutation research
18701435 Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Smith TR et al. 2008 Carcinogenesis
19109789 Single nucleotide polymorphisms in DNA repair genes and prostate cancer risk. Park JY et al. 2009 Methods in molecular biology (Clifton, N.J.)
19124499 Association and interactions between DNA repair gene polymorphisms and adult glioma. Liu Y et al. 2009 Cancer epidemiology, biomarkers & prevention
19249341 Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults. Walston JD et al. 2009 Experimental gerontology
19318434 Associations between polymorphisms in DNA repair genes and glioblastoma. McKean-Cowdin R et al. 2009 Cancer epidemiology, biomarkers & prevention
19822020 Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study. Zhu F et al. 2009 BMC gastroenterology
20150366 DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma. Rajaraman P et al. 2010 Neuro-oncology
20211558 Genetic advances in glioma: susceptibility genes and networks. Liu Y et al. 2010 Current opinion in genetics & development
20353610 Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes. Prasad P et al. 2010 BMC medical genetics
20486200 Evaluation of the poly(ADP-ribose) polymerase-1 gene variants in Alzheimer's disease. Liu HP et al. 2010 Journal of clinical laboratory analysis
20559012 Polyunsaturated fatty acids, DNA repair single nucleotide polymorphisms and colorectal cancer in the Singapore Chinese Health Study. Stern MC et al. 2009 Journal of nutrigenetics and nutrigenomics
21037106 Polymorphisms in base excision repair genes as colorectal cancer risk factors and modifiers of the effect of diets high in red meat. Brevik A et al. 2010 Cancer epidemiology, biomarkers & prevention
21129811 Associations between polymorphisms in DNA repair genes and TP53 mutations in non-small cell lung cancer. Cho S et al. 2011 Lung cancer (Amsterdam, Netherlands)
21385363 Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study. Emonts M et al. 2011 BMC medical genetics
21420246 Functional polymorphisms of base excision repair genes XRCC1 and APEX1 predict risk of radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy. Yin M et al. 2011 International journal of radiation oncology, biology, physics
21606320 Genetic associations with sporadic neuroendocrine tumor risk. Ter-Minassian M et al. 2011 Carcinogenesis
21700777 Genetic polymorphisms of multiple DNA repair pathways impact age at diagnosis and TP53 mutations in breast cancer. Smith TR et al. 2011 Carcinogenesis
21767974 Association analysis of PARP1 polymorphisms with Parkinson's disease. Brighina L et al. 2011 Parkinsonism & related disorders
21810555 Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk. Barry KH et al. 2011 Environmental health perspectives
21976407 Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking-related lung cancer. Buch SC et al. 2012 Molecular carcinogenesis
21989229 DNA repair gene polymorphisms and risk of chronic atrophic gastritis: a case-control study. Frank B et al. 2011 BMC cancer
22127734 Association between PARP-1 V762A polymorphism and cancer susceptibility: a meta-analysis. Yu H et al. 2012 Genetic epidemiology
22687647 Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population. Santonocito C et al. 2012 Clinica chimica acta; international journal of clinical chemistry
22740911 Single nucleotide polymorphisms in DNA repair genes and risk of cervical cancer: A case-control study. Zhang L et al. 2012 Oncology letters
22792228 Correlation between base-excision repair gene polymorphisms and levels of in-vitro BPDE-induced DNA adducts in cultured peripheral blood lymphocytes. Yu H et al. 2012 PloS one
22850545 Selected polymorphisms of base excision repair genes and pancreatic cancer risk in Japanese. Nakao M et al. 2012 Journal of epidemiology
22969958 Genetic polymorphisms in key DNA repair genes and risk of head and neck cancer in a Chinese population. Yuan H et al. 2012 Experimental and therapeutic medicine
23139751 Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population. Rodriguez-Flores JL et al. 2012 PloS one
23608917 Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment. Nho K et al. 2013 Molecular psychiatry
23633189 Involvement of PARP-1 Val762Ala polymorphism in the onset of cervical cancer in caucasian women. Roszak A et al. 2013 Molecular diagnosis & therapy
23644255 Effects of passive smoking on breast cancer risk in pre/post-menopausal women as modified by polymorphisms of PARP1 and ESR1. Tang LY et al. 2013 Gene
23720673 Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer. Wang M et al. 2013 Journal of biomedical research
24172093 Polymorphisms in base excision repair genes are associated with endometrial cancer risk among postmenopausal Japanese women. Hosono S et al. 2013 International journal of gynecological cancer
24203816 Two DNA repair gene polymorphisms on the risk of gastrointestinal cancers: a meta-analysis. Hu Y et al. 2014 Tumour biology
24340057 Genetic variations in radiation and chemotherapy drug action pathways and survival in locoregionally advanced nasopharyngeal carcinoma treated with chemoradiotherapy. Liu H et al. 2013 PloS one
24500421 Association between DNA repair gene polymorphisms and risk of glioma: a systematic review and meta-analysis. Adel Fahmideh M et al. 2014 Neuro-oncology
25106941 Association of common SNP rs1136410 in PARP1 gene with the susceptibility to male infertility with oligospermia. Chen H et al. 2014 Journal of assisted reproduction and genetics
25111588 Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women. Cartwright R et al. 2015 American journal of obstetrics and gynecology
25179837 Correlation between PARP-1 Val762Ala polymorphism and the risk of lung cancer in a Chinese population. Yu P et al. 2015 Tumour biology
25231222 Meat-derived carcinogens, genetic susceptibility and colorectal adenoma risk. Ho V et al. 2014 Genes & nutrition
25493225 Polymorphisms in base excision repair genes: Breast cancer risk and individual radiosensitivity. Patrono C et al. 2014 World journal of clinical oncology
25911198 Association Between PARP1 Single Nucleotide Polymorphism and Brain Tumors. Wang H et al. 2016 Molecular neurobiology
26648684 Update on genetics and diabetic retinopathy. Hampton BM et al. 2015 Clinical ophthalmology (Auckland, N.Z.)
26921778 Inhibition of PARP-1 participates in the mechanisms of propofol-induced amnesia in mice and human. Jia L et al. 2016 Brain research
27055523 Polymorphisms in DNA Repair Gene and Susceptibility to Glioma: A Systematic Review and Meta-Analysis Based on 33 Studies with 15 SNPs in 9 Genes. Liu K et al. 2017 Cellular and molecular neurobiology
27099827 Polymorphisms in DNA repair and oxidative stress genes associated with pre-treatment cognitive function in breast cancer survivors: an exploratory study. Koleck TA et al. 2016 SpringerPlus
27285066 DNA excision repair and double-strand break repair gene polymorphisms and the level of chromosome aberration in children with long-term exposure to radon. Larionov AV et al. 2016 International journal of radiation biology
27323894 Base excision repair pathway: PARP1 genotypes as modulators of therapy response in cervical cancer patients. Nogueira A et al. 2017 Biomarkers
27415837 Cervical Cancer Genetic Susceptibility: A Systematic Review and Meta-Analyses of Recent Evidence. Martínez-Nava GA et al. 2016 PloS one
27588484 Gene-gene interactions in gastrointestinal cancer susceptibility. Kim J et al. 2016 Oncotarget
27840165 Associations of PARP-1 variant rs1136410 with PARP activities, oxidative DNA damage, and the risk of age-related cataract in a Chinese Han population: A two-stage case-control analysis. Cui NH et al. 2017 Gene
27866211 Single-Nucleotide Polymorphisms of Genes Involved in Repair of Oxidative DNA Damage and the Risk of Recurrent Depressive Disorder. Czarny P et al. 2016 Medical science monitor
28765340 Lack of Association for Reported Endocrine Pancreatic Cancer Risk Loci in the PANDoRA Consortium. Campa D et al. 2017 Cancer epidemiology, biomarkers & prevention
28956850 Precision Nutrition for Targeting Lipid Metabolism in Colorectal Cancer. Aguirre-Portolés C et al. 2017 Nutrients
29399184 Influence of hypoxia-related genetic polymorphisms on the prognosis of patients with metastatic gastric cancer treated with EOF. Tang W et al. 2018 Oncology letters
29484706 Identification of a novel truncating mutation in PALB2 gene by a multigene sequencing panel for mutational screening of breast cancer risk-associated and related genes. Guacci A et al. 2018 Journal of clinical laboratory analysis
29662639 Polymorphisms in BER genes and risk of breast cancer: evidences from 69 studies with 33760 cases and 33252 controls. Qiao L et al. 2018 Oncotarget
30183716 Interaction among susceptibility genotypes of PARP1 SNPs in thyroid carcinoma. Bashir K et al. 2018 PloS one
30337837 Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis. Wen J et al. 2018 Cancer cell international
31288058 Association of PARP1 rs4653734, rs907187 and rs1136410 variants with breast cancer risk among Iranian women. Ramezani S et al. 2019 Gene
31413734 <i>PARP1</i> gene polymorphisms and neuroblastoma susceptibility in Chinese children. Cheng J et al. 2019 Journal of Cancer
31489712 Impact of four lncRNA polymorphisms (rs2151280, rs7763881, rs1136410, and rs3787016) on glioma risk and prognosis: A case-control study. Deng Y et al. 2019 Molecular carcinogenesis
31584889 Polymorphisms in DNA repair genes in lung cancer patients living in a coal-mining region. Minina VI et al. 2019 European journal of cancer prevention
31609976 Modulation of brain tumor risk by genetic SNPs in PARP1gene: Hospital based case control study. Khan AU et al. 2019 PloS one
31762827 Genetic variants in <i>RTEL1</i> influencing telomere length are associated with prostate cancer risk. Gu CY et al. 2019 Journal of Cancer
31818908 Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer. Montazeri Z et al. 2020 Gut
31983162 Association between PSCA, TNF-α, PARP1 and TP53 Gene Polymorphisms and Gastric Cancer Susceptibility in the Brazilian Population. Dantas RN et al. 2020 Asian Pacific journal of cancer prevention
33108038 Contributions of PARP-1 rs1136410 C&gt;T polymorphism to the development of cancer. Li H et al. 2020 Journal of cellular and molecular medicine
33112558 PARP1 Gene Polymorphisms and the Prognosis of Esophageal Cancer Patients from Cixian High-Incidence Region in Northern China. Zhou RM et al. 2020 Asian Pacific journal of cancer prevention
33147530 A functional polymorphism in the poly(ADP-ribose) polymerase-1 gene is associated with platinum-based chemotherapeutic response and prognosis in epithelial ovarian cancer patients. Zhao J et al. 2020 European journal of obstetrics, gynecology, and reproductive biology
33284833 Association of PARP1-specific polymorphisms and haplotypes with non-small cell lung cancer subtypes. Jin J et al. 2020 PloS one
33528729 PARP1 rs1136410 C/C genotype associated with an increased risk of esophageal cancer in smokers. Zhou R et al. 2021 Molecular biology reports
33706586 <i>PARP1</i> rs1136410 Val762Ala contributes to an increased risk of overall cancer in the East Asian population: a meta-analysis. Xin Y et al. 2021 The Journal of international medical research
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
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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