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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.

rs1805414

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:226385663 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.438725 (116126/264690, TOPMED)
G=0.426227 (107127/251338, GnomAD_exome)
G=0.423236 (59264/140026, GnomAD) (+ 23 more)
G=0.422802 (51280/121286, ExAC)
G=0.36121 (32229/89226, ALFA)
A=0.22027 (6224/28256, 14KJPN)
A=0.21975 (3683/16760, 8.3KJPN)
G=0.40773 (5303/13006, GO-ESP)
A=0.4797 (3072/6404, 1000G_30x)
A=0.4834 (2421/5008, 1000G)
G=0.3377 (1513/4480, Estonian)
G=0.3243 (1250/3854, ALSPAC)
G=0.3104 (1151/3708, TWINSUK)
A=0.2290 (671/2930, KOREAN)
A=0.4709 (891/1892, HapMap)
A=0.2172 (398/1832, Korea1K)
G=0.363 (362/998, GoNL)
A=0.220 (174/790, PRJEB37584)
A=0.165 (101/612, Vietnamese)
G=0.398 (239/600, NorthernSweden)
G=0.283 (151/534, MGP)
A=0.295 (125/424, SGDP_PRJ)
G=0.395 (120/304, FINRISK)
G=0.361 (78/216, Qatari)
A=0.30 (14/46, Siberian)
G=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP1 : Synonymous Variant
Publications
9 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 89226 A=0.63879 G=0.36121
European Sub 66044 A=0.67017 G=0.32983
African Sub 5786 A=0.4597 G=0.5403
African Others Sub 198 A=0.359 G=0.641
African American Sub 5588 A=0.4633 G=0.5367
Asian Sub 510 A=0.212 G=0.788
East Asian Sub 412 A=0.204 G=0.796
Other Asian Sub 98 A=0.24 G=0.76
Latin American 1 Sub 944 A=0.604 G=0.396
Latin American 2 Sub 4982 A=0.4851 G=0.5149
South Asian Sub 178 A=0.657 G=0.343
Other Sub 10782 A=0.63662 G=0.36338


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=0.561275 G=0.438725
gnomAD - Exomes Global Study-wide 251338 A=0.573773 G=0.426227
gnomAD - Exomes European Sub 135286 A=0.651080 G=0.348920
gnomAD - Exomes Asian Sub 49004 A=0.46696 G=0.53304
gnomAD - Exomes American Sub 34586 A=0.44619 G=0.55381
gnomAD - Exomes African Sub 16246 A=0.44749 G=0.55251
gnomAD - Exomes Ashkenazi Jewish Sub 10078 A=0.66610 G=0.33390
gnomAD - Exomes Other Sub 6138 A=0.6241 G=0.3759
gnomAD - Genomes Global Study-wide 140026 A=0.576764 G=0.423236
gnomAD - Genomes European Sub 75844 A=0.65999 G=0.34001
gnomAD - Genomes African Sub 41950 A=0.45800 G=0.54200
gnomAD - Genomes American Sub 13632 A=0.54673 G=0.45327
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.6728 G=0.3272
gnomAD - Genomes East Asian Sub 3130 A=0.1827 G=0.8173
gnomAD - Genomes Other Sub 2148 A=0.5740 G=0.4260
ExAC Global Study-wide 121286 A=0.577198 G=0.422802
ExAC Europe Sub 73274 A=0.65014 G=0.34986
ExAC Asian Sub 25148 A=0.48521 G=0.51479
ExAC American Sub 11564 A=0.42243 G=0.57757
ExAC African Sub 10392 A=0.45256 G=0.54744
ExAC Other Sub 908 A=0.637 G=0.363
Allele Frequency Aggregator Total Global 89226 A=0.63879 G=0.36121
Allele Frequency Aggregator European Sub 66044 A=0.67017 G=0.32983
Allele Frequency Aggregator Other Sub 10782 A=0.63662 G=0.36338
Allele Frequency Aggregator African Sub 5786 A=0.4597 G=0.5403
Allele Frequency Aggregator Latin American 2 Sub 4982 A=0.4851 G=0.5149
Allele Frequency Aggregator Latin American 1 Sub 944 A=0.604 G=0.396
Allele Frequency Aggregator Asian Sub 510 A=0.212 G=0.788
Allele Frequency Aggregator South Asian Sub 178 A=0.657 G=0.343
14KJPN JAPANESE Study-wide 28256 A=0.22027 G=0.77973
8.3KJPN JAPANESE Study-wide 16760 A=0.21975 G=0.78025
GO Exome Sequencing Project Global Study-wide 13006 A=0.59227 G=0.40773
GO Exome Sequencing Project European American Sub 8600 A=0.6585 G=0.3415
GO Exome Sequencing Project African American Sub 4406 A=0.4630 G=0.5370
1000Genomes_30x Global Study-wide 6404 A=0.4797 G=0.5203
1000Genomes_30x African Sub 1786 A=0.4334 G=0.5666
1000Genomes_30x Europe Sub 1266 A=0.6611 G=0.3389
1000Genomes_30x South Asian Sub 1202 A=0.6190 G=0.3810
1000Genomes_30x East Asian Sub 1170 A=0.2077 G=0.7923
1000Genomes_30x American Sub 980 A=0.484 G=0.516
1000Genomes Global Study-wide 5008 A=0.4834 G=0.5166
1000Genomes African Sub 1322 A=0.4418 G=0.5582
1000Genomes East Asian Sub 1008 A=0.2054 G=0.7946
1000Genomes Europe Sub 1006 A=0.6710 G=0.3290
1000Genomes South Asian Sub 978 A=0.624 G=0.376
1000Genomes American Sub 694 A=0.497 G=0.503
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6623 G=0.3377
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6757 G=0.3243
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6896 G=0.3104
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.2290 G=0.7710, T=0.0000
HapMap Global Study-wide 1892 A=0.4709 G=0.5291
HapMap American Sub 770 A=0.483 G=0.517
HapMap African Sub 692 A=0.486 G=0.514
HapMap Asian Sub 254 A=0.220 G=0.780
HapMap Europe Sub 176 A=0.722 G=0.278
Korean Genome Project KOREAN Study-wide 1832 A=0.2172 G=0.7828
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.637 G=0.363
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.220 G=0.780
CNV burdens in cranial meningiomas CRM Sub 790 A=0.220 G=0.780
A Vietnamese Genetic Variation Database Global Study-wide 612 A=0.165 G=0.835
Northern Sweden ACPOP Study-wide 600 A=0.602 G=0.398
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.717 G=0.283
SGDP_PRJ Global Study-wide 424 A=0.295 G=0.705
FINRISK Finnish from FINRISK project Study-wide 304 A=0.605 G=0.395
Qatari Global Study-wide 216 A=0.639 G=0.361
Siberian Global Study-wide 46 A=0.30 G=0.70
The Danish reference pan genome Danish Study-wide 40 A=0.62 G=0.38
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.226385663A>G
GRCh38.p14 chr 1 NC_000001.11:g.226385663A>T
GRCh37.p13 chr 1 NC_000001.10:g.226573364A>G
GRCh37.p13 chr 1 NC_000001.10:g.226573364A>T
Gene: PARP1, poly(ADP-ribose) polymerase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PARP1 transcript NM_001618.4:c.852T>C A [GCT] > A [GCC] Coding Sequence Variant
poly [ADP-ribose] polymerase 1 NP_001609.2:p.Ala284= A (Ala) > A (Ala) Synonymous Variant
PARP1 transcript NM_001618.4:c.852T>A A [GCT] > A [GCA] Coding Sequence Variant
poly [ADP-ribose] polymerase 1 NP_001609.2:p.Ala284= A (Ala) > A (Ala) Synonymous 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
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 T
GRCh38.p14 chr 1 NC_000001.11:g.226385663= NC_000001.11:g.226385663A>G NC_000001.11:g.226385663A>T
GRCh37.p13 chr 1 NC_000001.10:g.226573364= NC_000001.10:g.226573364A>G NC_000001.10:g.226573364A>T
PARP1 transcript NM_001618.4:c.852= NM_001618.4:c.852T>C NM_001618.4:c.852T>A
PARP1 transcript NM_001618.3:c.852= NM_001618.3:c.852T>C NM_001618.3:c.852T>A
poly [ADP-ribose] polymerase 1 NP_001609.2:p.Ala284= NP_001609.2:p.Ala284= NP_001609.2:p.Ala284=
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#.

132 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 UWGC ss2667859 Jan 12, 2001 (92)
2 WICVAR ss3177617 Aug 15, 2001 (102)
3 HGBASE ss3188749 Aug 15, 2001 (98)
4 SC_JCM ss3955326 Sep 28, 2001 (100)
5 EGP_SNPS ss4480442 Jul 03, 2002 (106)
6 YUSUKE ss4924712 Aug 28, 2002 (108)
7 SNP500CANCER ss5586202 Mar 31, 2003 (113)
8 SC_SNP ss13004606 Dec 05, 2003 (119)
9 SC_SNP ss15382304 Feb 27, 2004 (120)
10 CGAP-GAI ss16230519 Feb 28, 2004 (126)
11 IMCJ-GDT ss22886570 Apr 05, 2004 (123)
12 PERLEGEN ss23186308 Sep 20, 2004 (123)
13 MGC_GENOME_DIFF ss28498595 Sep 24, 2004 (126)
14 MGC_GENOME_DIFF ss28513528 Sep 24, 2004 (126)
15 ABI ss43891203 Mar 10, 2006 (126)
16 ILLUMINA ss65741016 Oct 16, 2006 (127)
17 ILLUMINA ss74902009 Dec 07, 2007 (129)
18 CGM_KYOTO ss76877468 Dec 07, 2007 (129)
19 HGSV ss79028231 Dec 07, 2007 (129)
20 HGSV ss83546974 Dec 16, 2007 (130)
21 CORNELL ss86237649 Mar 23, 2008 (129)
22 CANCER-GENOME ss86342308 Mar 23, 2008 (129)
23 CNG ss95212966 Mar 25, 2008 (129)
24 BGI ss106636540 Feb 06, 2009 (130)
25 1000GENOMES ss108999493 Jan 23, 2009 (130)
26 1000GENOMES ss111868141 Jan 25, 2009 (130)
27 ILLUMINA-UK ss119229508 Feb 15, 2009 (130)
28 KRIBB_YJKIM ss119404164 Dec 01, 2009 (131)
29 GMI ss156364899 Dec 01, 2009 (131)
30 SEATTLESEQ ss159700721 Dec 01, 2009 (131)
31 ILLUMINA ss160463337 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss165300486 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss165860156 Jul 04, 2010 (132)
34 COMPLETE_GENOMICS ss167543484 Jul 04, 2010 (132)
35 BUSHMAN ss199689238 Jul 04, 2010 (132)
36 1000GENOMES ss218916087 Jul 14, 2010 (132)
37 1000GENOMES ss230928887 Jul 14, 2010 (132)
38 1000GENOMES ss238536660 Jul 15, 2010 (132)
39 GMI ss276244174 May 04, 2012 (137)
40 PJP ss290747267 May 09, 2011 (134)
41 NHLBI-ESP ss342033466 May 09, 2011 (134)
42 ILLUMINA ss481069138 Sep 08, 2015 (146)
43 ILLUMINA ss482246929 May 04, 2012 (137)
44 ILLUMINA ss483846963 May 04, 2012 (137)
45 1000GENOMES ss489794790 May 04, 2012 (137)
46 CLINSEQ_SNP ss491616380 May 04, 2012 (137)
47 ILLUMINA ss536042797 Sep 08, 2015 (146)
48 TISHKOFF ss555178900 Apr 25, 2013 (138)
49 SSMP ss648750584 Apr 25, 2013 (138)
50 ILLUMINA ss779518404 Sep 08, 2015 (146)
51 ILLUMINA ss782367050 Sep 08, 2015 (146)
52 ILLUMINA ss834988856 Sep 08, 2015 (146)
53 JMKIDD_LAB ss974439990 Aug 21, 2014 (142)
54 EVA-GONL ss976213739 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1067432553 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1068653989 Aug 21, 2014 (142)
57 1000GENOMES ss1294911987 Aug 21, 2014 (142)
58 EVA_GENOME_DK ss1574721912 Apr 01, 2015 (144)
59 EVA_FINRISK ss1584015460 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1602279379 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1645273412 Apr 01, 2015 (144)
62 EVA_EXAC ss1686082357 Apr 01, 2015 (144)
63 EVA_MGP ss1710945838 Apr 01, 2015 (144)
64 EVA_SVP ss1712410437 Apr 01, 2015 (144)
65 HAMMER_LAB ss1795818602 Sep 08, 2015 (146)
66 WEILL_CORNELL_DGM ss1919435796 Feb 12, 2016 (147)
67 GENOMED ss1966989382 Jul 19, 2016 (147)
68 JJLAB ss2020242361 Sep 14, 2016 (149)
69 USC_VALOUEV ss2148276678 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2170628856 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2624632465 Nov 08, 2017 (151)
72 ILLUMINA ss2632637651 Nov 08, 2017 (151)
73 GRF ss2698274869 Nov 08, 2017 (151)
74 GNOMAD ss2732318943 Nov 08, 2017 (151)
75 GNOMAD ss2746575252 Nov 08, 2017 (151)
76 GNOMAD ss2766965374 Nov 08, 2017 (151)
77 SWEGEN ss2988559557 Nov 08, 2017 (151)
78 EVA_SAMSUNG_MC ss3023057643 Nov 08, 2017 (151)
79 BIOINF_KMB_FNS_UNIBA ss3023881582 Nov 08, 2017 (151)
80 CSHL ss3343943019 Nov 08, 2017 (151)
81 ILLUMINA ss3626323413 Oct 11, 2018 (152)
82 ILLUMINA ss3630667052 Oct 11, 2018 (152)
83 ILLUMINA ss3636055062 Oct 11, 2018 (152)
84 ILLUMINA ss3642824010 Oct 11, 2018 (152)
85 OMUKHERJEE_ADBS ss3646254271 Oct 11, 2018 (152)
86 EGCUT_WGS ss3656518493 Jul 12, 2019 (153)
87 EVA_DECODE ss3688758527 Jul 12, 2019 (153)
88 ACPOP ss3727920070 Jul 12, 2019 (153)
89 EVA ss3747417414 Jul 12, 2019 (153)
90 KHV_HUMAN_GENOMES ss3800420258 Jul 12, 2019 (153)
91 EVA ss3823721672 Apr 25, 2020 (154)
92 EVA ss3825518981 Apr 25, 2020 (154)
93 EVA ss3825535934 Apr 25, 2020 (154)
94 EVA ss3825589459 Apr 25, 2020 (154)
95 EVA ss3826678103 Apr 25, 2020 (154)
96 EVA ss3836741105 Apr 25, 2020 (154)
97 EVA ss3842153368 Apr 25, 2020 (154)
98 SGDP_PRJ ss3851034773 Apr 25, 2020 (154)
99 KRGDB ss3896371483 Apr 25, 2020 (154)
100 KOGIC ss3946626735 Apr 25, 2020 (154)
101 FSA-LAB ss3983965153 Apr 25, 2021 (155)
102 FSA-LAB ss3983965154 Apr 25, 2021 (155)
103 EVA ss3984473079 Apr 25, 2021 (155)
104 EVA ss3986015759 Apr 25, 2021 (155)
105 EVA ss3986161476 Apr 25, 2021 (155)
106 TOPMED ss4485896017 Apr 25, 2021 (155)
107 TOMMO_GENOMICS ss5148735135 Apr 25, 2021 (155)
108 EVA ss5236879293 Apr 25, 2021 (155)
109 EVA ss5237634412 Oct 12, 2022 (156)
110 1000G_HIGH_COVERAGE ss5246025923 Oct 12, 2022 (156)
111 TRAN_CS_UWATERLOO ss5314399346 Oct 12, 2022 (156)
112 EVA ss5314687437 Oct 12, 2022 (156)
113 EVA ss5325209365 Oct 12, 2022 (156)
114 HUGCELL_USP ss5446438024 Oct 12, 2022 (156)
115 EVA ss5506212453 Oct 12, 2022 (156)
116 1000G_HIGH_COVERAGE ss5520239871 Oct 12, 2022 (156)
117 EVA ss5623918624 Oct 12, 2022 (156)
118 EVA ss5624003758 Oct 12, 2022 (156)
119 SANFORD_IMAGENETICS ss5627577256 Oct 12, 2022 (156)
120 TOMMO_GENOMICS ss5676581754 Oct 12, 2022 (156)
121 EVA ss5799412575 Oct 12, 2022 (156)
122 EVA ss5800090533 Oct 12, 2022 (156)
123 YY_MCH ss5801697572 Oct 12, 2022 (156)
124 EVA ss5833355036 Oct 12, 2022 (156)
125 EVA ss5846863372 Oct 12, 2022 (156)
126 EVA ss5848287298 Oct 12, 2022 (156)
127 EVA ss5849314810 Oct 12, 2022 (156)
128 EVA ss5912236342 Oct 12, 2022 (156)
129 EVA ss5936514156 Oct 12, 2022 (156)
130 EVA ss5939421261 Oct 12, 2022 (156)
131 EVA ss5980018947 Oct 12, 2022 (156)
132 EVA ss5981201324 Oct 12, 2022 (156)
133 1000Genomes NC_000001.10 - 226573364 Oct 11, 2018 (152)
134 1000Genomes_30x NC_000001.11 - 226385663 Oct 12, 2022 (156)
135 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 226573364 Oct 11, 2018 (152)
136 Genetic variation in the Estonian population NC_000001.10 - 226573364 Oct 11, 2018 (152)
137 ExAC NC_000001.10 - 226573364 Oct 11, 2018 (152)
138 FINRISK NC_000001.10 - 226573364 Apr 25, 2020 (154)
139 The Danish reference pan genome NC_000001.10 - 226573364 Apr 25, 2020 (154)
140 gnomAD - Genomes NC_000001.11 - 226385663 Apr 25, 2021 (155)
141 gnomAD - Exomes NC_000001.10 - 226573364 Jul 12, 2019 (153)
142 GO Exome Sequencing Project NC_000001.10 - 226573364 Oct 11, 2018 (152)
143 Genome of the Netherlands Release 5 NC_000001.10 - 226573364 Apr 25, 2020 (154)
144 HapMap NC_000001.11 - 226385663 Apr 25, 2020 (154)
145 KOREAN population from KRGDB NC_000001.10 - 226573364 Apr 25, 2020 (154)
146 Korean Genome Project NC_000001.11 - 226385663 Apr 25, 2020 (154)
147 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 226573364 Apr 25, 2020 (154)
148 Northern Sweden NC_000001.10 - 226573364 Jul 12, 2019 (153)
149 CNV burdens in cranial meningiomas NC_000001.10 - 226573364 Apr 25, 2021 (155)
150 Qatari NC_000001.10 - 226573364 Apr 25, 2020 (154)
151 SGDP_PRJ NC_000001.10 - 226573364 Apr 25, 2020 (154)
152 Siberian NC_000001.10 - 226573364 Apr 25, 2020 (154)
153 8.3KJPN NC_000001.10 - 226573364 Apr 25, 2021 (155)
154 14KJPN NC_000001.11 - 226385663 Oct 12, 2022 (156)
155 TopMed NC_000001.11 - 226385663 Apr 25, 2021 (155)
156 UK 10K study - Twins NC_000001.10 - 226573364 Oct 11, 2018 (152)
157 A Vietnamese Genetic Variation Database NC_000001.10 - 226573364 Jul 12, 2019 (153)
158 ALFA NC_000001.11 - 226385663 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)
rs2230482 Jan 04, 2002 (102)
rs3738712 Oct 09, 2002 (108)
rs11541663 Mar 10, 2006 (126)
rs13306132 Sep 24, 2004 (123)
rs16845837 Oct 07, 2004 (123)
rs17846210 Mar 10, 2006 (126)
rs17859226 Mar 10, 2006 (126)
rs61304985 May 26, 2008 (130)
rs117404261 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss79028231, ss83546974 NC_000001.8:222880098:A:G NC_000001.11:226385662:A:G (self)
ss108999493, ss111868141, ss119229508, ss165300486, ss165860156, ss167543484, ss199689238, ss276244174, ss290747267, ss482246929, ss491616380, ss1712410437, ss3642824010 NC_000001.9:224639986:A:G NC_000001.11:226385662:A:G (self)
5776075, 3192290, 2256741, 5321107, 11921, 1913173, 1355944, 180181, 1395057, 3548877, 62590, 1204935, 22400, 1477726, 3051753, 793032, 6704442, 3192290, 693325, ss218916087, ss230928887, ss238536660, ss342033466, ss481069138, ss483846963, ss489794790, ss536042797, ss555178900, ss648750584, ss779518404, ss782367050, ss834988856, ss974439990, ss976213739, ss1067432553, ss1068653989, ss1294911987, ss1574721912, ss1584015460, ss1602279379, ss1645273412, ss1686082357, ss1710945838, ss1795818602, ss1919435796, ss1966989382, ss2020242361, ss2148276678, ss2624632465, ss2632637651, ss2698274869, ss2732318943, ss2746575252, ss2766965374, ss2988559557, ss3023057643, ss3343943019, ss3626323413, ss3630667052, ss3636055062, ss3646254271, ss3656518493, ss3727920070, ss3747417414, ss3823721672, ss3825518981, ss3825535934, ss3825589459, ss3826678103, ss3836741105, ss3851034773, ss3896371483, ss3983965153, ss3983965154, ss3984473079, ss3986015759, ss3986161476, ss5148735135, ss5314687437, ss5325209365, ss5506212453, ss5623918624, ss5624003758, ss5627577256, ss5799412575, ss5800090533, ss5833355036, ss5848287298, ss5936514156, ss5939421261, ss5980018947, ss5981201324 NC_000001.10:226573363:A:G NC_000001.11:226385662:A:G (self)
7765806, 41486064, 282175, 3004736, 10418858, 49502352, 5369728705, ss2170628856, ss3023881582, ss3688758527, ss3800420258, ss3842153368, ss3946626735, ss4485896017, ss5236879293, ss5237634412, ss5246025923, ss5314399346, ss5446438024, ss5520239871, ss5676581754, ss5801697572, ss5846863372, ss5849314810, ss5912236342 NC_000001.11:226385662:A:G NC_000001.11:226385662:A:G (self)
ss13004606 NT_004559.10:86681:A:G NC_000001.11:226385662:A:G (self)
ss15382304 NT_004559.11:2749557:A:G NC_000001.11:226385662:A:G (self)
ss2667859, ss3177617, ss3188749, ss3955326, ss4480442, ss4924712, ss5586202, ss16230519, ss22886570, ss23186308, ss28498595, ss28513528, ss43891203, ss65741016, ss74902009, ss76877468, ss86237649, ss86342308, ss95212966, ss106636540, ss119404164, ss156364899, ss159700721, ss160463337 NT_167186.1:20091142:A:G NC_000001.11:226385662:A:G (self)
3548877, ss3896371483 NC_000001.10:226573363:A:T NC_000001.11:226385662:A:T (self)
Help

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

9 citations for rs1805414
PMID Title Author Year Journal
18805967 Genetic associations with thalidomide mediated venous thrombotic events in myeloma identified using targeted genotyping. Johnson DC et al. 2008 Blood
19604089 Pharmacodynamic genes do not influence risk of neutropenia in cancer patients treated with moderately high-dose irinotecan. Hoskins JM et al. 2009 Pharmacogenomics
21695249 Identification of novel SNPs in glioblastoma using targeted resequencing. Keller A et al. 2011 PloS one
21767974 Association analysis of PARP1 polymorphisms with Parkinson's disease. Brighina L et al. 2011 Parkinsonism & related disorders
27746584 The Effect of Poly(ADP-ribose) Polymerase-1 Gene 3'Untranslated Region Polymorphism in Colorectal Cancer Risk among Saudi Cohort. Alhadheq AM et al. 2016 Disease markers
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
31609976 Modulation of brain tumor risk by genetic SNPs in PARP1gene: Hospital based case control study. Khan AU et al. 2019 PloS one
33284833 Association of PARP1-specific polymorphisms and haplotypes with non-small cell lung cancer subtypes. Jin J et al. 2020 PloS one
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.post761+d5e8e07