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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.

rs1805404

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:226402257 (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>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.186414 (49342/264690, TOPMED)
A=0.208544 (25303/121332, ExAC)
A=0.14475 (8475/58548, ALFA) (+ 20 more)
A=0.40245 (6745/16760, 8.3KJPN)
A=0.14770 (1921/13006, GO-ESP)
A=0.2183 (1093/5008, 1000G)
A=0.1819 (815/4480, Estonian)
A=0.1583 (610/3854, ALSPAC)
A=0.1467 (544/3708, TWINSUK)
A=0.4509 (1321/2930, KOREAN)
A=0.2133 (401/1880, HapMap)
A=0.4552 (834/1832, Korea1K)
A=0.191 (191/998, GoNL)
A=0.422 (330/782, PRJEB37584)
A=0.283 (177/626, Chileans)
A=0.440 (270/614, Vietnamese)
A=0.268 (161/600, NorthernSweden)
A=0.125 (67/534, MGP)
A=0.230 (70/304, FINRISK)
G=0.384 (103/268, SGDP_PRJ)
A=0.176 (38/216, Qatari)
A=0.25 (10/40, GENOME_DK)
G=0.46 (11/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP1 : Missense Variant
Publications
6 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.226402257G>A
GRCh38.p13 chr 1 NC_000001.11:g.226402257G>C
GRCh37.p13 chr 1 NC_000001.10:g.226589958G>A
GRCh37.p13 chr 1 NC_000001.10:g.226589958G>C
Gene: PARP1, poly(ADP-ribose) polymerase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PARP1 transcript NM_001618.4:c.243C>T D [GAC] > D [GAT] Coding Sequence Variant
poly [ADP-ribose] polymerase 1 NP_001609.2:p.Asp81= D (Asp) > D (Asp) Synonymous Variant
PARP1 transcript NM_001618.4:c.243C>G D [GAC] > E [GAG] Coding Sequence Variant
poly [ADP-ribose] polymerase 1 NP_001609.2:p.Asp81Glu D (Asp) > E (Glu) 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 58548 G=0.85525 A=0.14475, C=0.00000
European Sub 41908 G=0.86308 A=0.13692, C=0.00000
African Sub 4986 G=0.9306 A=0.0694, C=0.0000
African Others Sub 168 G=0.970 A=0.030, C=0.000
African American Sub 4818 G=0.9292 A=0.0708, C=0.0000
Asian Sub 170 G=0.706 A=0.294, C=0.000
East Asian Sub 90 G=0.79 A=0.21, C=0.00
Other Asian Sub 80 G=0.61 A=0.39, C=0.00
Latin American 1 Sub 934 G=0.851 A=0.149, C=0.000
Latin American 2 Sub 2444 G=0.6698 A=0.3302, C=0.0000
South Asian Sub 128 G=0.961 A=0.039, C=0.000
Other Sub 7978 G=0.8258 A=0.1742, C=0.0000


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=0.813586 A=0.186414
ExAC Global Study-wide 121332 G=0.791456 A=0.208544
ExAC Europe Sub 73324 G=0.82039 A=0.17961
ExAC Asian Sub 25138 G=0.78268 A=0.21732
ExAC American Sub 11566 G=0.55015 A=0.44985
ExAC African Sub 10396 G=0.87447 A=0.12553
ExAC Other Sub 908 G=0.822 A=0.178
Allele Frequency Aggregator Total Global 58548 G=0.85525 A=0.14475, C=0.00000
Allele Frequency Aggregator European Sub 41908 G=0.86308 A=0.13692, C=0.00000
Allele Frequency Aggregator Other Sub 7978 G=0.8258 A=0.1742, C=0.0000
Allele Frequency Aggregator African Sub 4986 G=0.9306 A=0.0694, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2444 G=0.6698 A=0.3302, C=0.0000
Allele Frequency Aggregator Latin American 1 Sub 934 G=0.851 A=0.149, C=0.000
Allele Frequency Aggregator Asian Sub 170 G=0.706 A=0.294, C=0.000
Allele Frequency Aggregator South Asian Sub 128 G=0.961 A=0.039, C=0.000
8.3KJPN JAPANESE Study-wide 16760 G=0.59755 A=0.40245
GO Exome Sequencing Project Global Study-wide 13006 G=0.85230 A=0.14770
GO Exome Sequencing Project European American Sub 8600 G=0.8409 A=0.1591
GO Exome Sequencing Project African American Sub 4406 G=0.8745 A=0.1255
1000Genomes Global Study-wide 5008 G=0.7817 A=0.2183
1000Genomes African Sub 1322 G=0.8850 A=0.1150
1000Genomes East Asian Sub 1008 G=0.5635 A=0.4365
1000Genomes Europe Sub 1006 G=0.8459 A=0.1541
1000Genomes South Asian Sub 978 G=0.900 A=0.100
1000Genomes American Sub 694 G=0.643 A=0.357
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8181 A=0.1819
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8417 A=0.1583
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8533 A=0.1467
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5491 A=0.4509
HapMap Global Study-wide 1880 G=0.7867 A=0.2133
HapMap American Sub 762 G=0.761 A=0.239
HapMap African Sub 688 G=0.875 A=0.125
HapMap Asian Sub 254 G=0.547 A=0.453
HapMap Europe Sub 176 G=0.898 A=0.102
Korean Genome Project KOREAN Study-wide 1832 G=0.5448 A=0.4552
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.809 A=0.191
CNV burdens in cranial meningiomas Global Study-wide 782 G=0.578 A=0.422
CNV burdens in cranial meningiomas CRM Sub 782 G=0.578 A=0.422
Chileans Chilean Study-wide 626 G=0.717 A=0.283
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.560 A=0.440
Northern Sweden ACPOP Study-wide 600 G=0.732 A=0.268
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.875 A=0.125
FINRISK Finnish from FINRISK project Study-wide 304 G=0.770 A=0.230
SGDP_PRJ Global Study-wide 268 G=0.384 A=0.616
Qatari Global Study-wide 216 G=0.824 A=0.176
The Danish reference pan genome Danish Study-wide 40 G=0.75 A=0.25
Siberian Global Study-wide 24 G=0.46 A=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 G= A C
GRCh38.p13 chr 1 NC_000001.11:g.226402257= NC_000001.11:g.226402257G>A NC_000001.11:g.226402257G>C
GRCh37.p13 chr 1 NC_000001.10:g.226589958= NC_000001.10:g.226589958G>A NC_000001.10:g.226589958G>C
PARP1 transcript NM_001618.4:c.243= NM_001618.4:c.243C>T NM_001618.4:c.243C>G
PARP1 transcript NM_001618.3:c.243= NM_001618.3:c.243C>T NM_001618.3:c.243C>G
poly [ADP-ribose] polymerase 1 NP_001609.2:p.Asp81= NP_001609.2:p.Asp81= NP_001609.2:p.Asp81Glu
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#.

93 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 UWGC ss2667848 Jan 12, 2001 (92)
2 HGBASE ss3188747 Aug 15, 2001 (98)
3 SC_JCM ss3807460 Sep 28, 2001 (100)
4 EGP_SNPS ss4480397 Jul 03, 2002 (106)
5 YUSUKE ss4924709 Aug 28, 2002 (108)
6 SNP500CANCER ss5586196 Mar 31, 2003 (113)
7 WI_SSAHASNP ss6404826 Feb 20, 2003 (111)
8 SC_SNP ss13004660 Dec 05, 2003 (119)
9 CGAP-GAI ss16230518 Feb 27, 2004 (120)
10 CSHL-HAPMAP ss16441563 Feb 27, 2004 (120)
11 IMCJ-GDT ss22886566 Apr 05, 2004 (121)
12 MGC_GENOME_DIFF ss28508063 Sep 24, 2004 (126)
13 ABI ss41185532 Mar 10, 2006 (126)
14 EGP_SNPS ss66860125 Dec 01, 2006 (127)
15 AFFY ss76610950 Dec 08, 2007 (130)
16 CGM_KYOTO ss76877459 Dec 07, 2007 (129)
17 CORNELL ss86237648 Mar 23, 2008 (129)
18 CANCER-GENOME ss86342312 Mar 23, 2008 (129)
19 CNG ss95212955 Mar 25, 2008 (129)
20 KRIBB_YJKIM ss104853778 Feb 05, 2009 (130)
21 BGI ss106636552 Feb 05, 2009 (130)
22 1000GENOMES ss108999545 Jan 23, 2009 (130)
23 GMI ss156365127 Dec 01, 2009 (131)
24 SEATTLESEQ ss159700722 Dec 01, 2009 (131)
25 ILLUMINA ss160463332 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss167543547 Jul 04, 2010 (132)
27 BUSHMAN ss199689423 Jul 04, 2010 (132)
28 1000GENOMES ss218916148 Jul 14, 2010 (132)
29 1000GENOMES ss230928932 Jul 14, 2010 (132)
30 1000GENOMES ss238536705 Jul 15, 2010 (132)
31 BL ss253867772 May 09, 2011 (134)
32 GMI ss276244222 May 04, 2012 (137)
33 NHLBI-ESP ss342033498 May 09, 2011 (134)
34 ILLUMINA ss481069118 Sep 08, 2015 (146)
35 1000GENOMES ss489794822 May 04, 2012 (137)
36 CLINSEQ_SNP ss491616399 May 04, 2012 (137)
37 ILLUMINA ss536542221 Sep 08, 2015 (146)
38 TISHKOFF ss555178984 Apr 25, 2013 (138)
39 SSMP ss648750655 Apr 25, 2013 (138)
40 JMKIDD_LAB ss974439995 Aug 21, 2014 (142)
41 EVA-GONL ss976213857 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1067432561 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1068654086 Aug 21, 2014 (142)
44 1000GENOMES ss1294912465 Aug 21, 2014 (142)
45 EVA_GENOME_DK ss1574721955 Apr 01, 2015 (144)
46 EVA_FINRISK ss1584015466 Apr 01, 2015 (144)
47 EVA_DECODE ss1585611777 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1602279628 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1645273661 Apr 01, 2015 (144)
50 EVA_EXAC ss1686082621 Apr 01, 2015 (144)
51 EVA_MGP ss1710945862 Apr 01, 2015 (144)
52 EVA_SVP ss1712410449 Apr 01, 2015 (144)
53 HAMMER_LAB ss1795818749 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1919435899 Feb 12, 2016 (147)
55 GENOMED ss1966989403 Jul 19, 2016 (147)
56 JJLAB ss2020242416 Sep 14, 2016 (149)
57 USC_VALOUEV ss2148276738 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2170629888 Dec 20, 2016 (150)
59 TOPMED ss2333270860 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2624632505 Nov 08, 2017 (151)
61 GRF ss2698274942 Nov 08, 2017 (151)
62 GNOMAD ss2732319306 Nov 08, 2017 (151)
63 GNOMAD ss2746575367 Nov 08, 2017 (151)
64 GNOMAD ss2766966669 Nov 08, 2017 (151)
65 SWEGEN ss2988559716 Nov 08, 2017 (151)
66 BIOINF_KMB_FNS_UNIBA ss3023881621 Nov 08, 2017 (151)
67 TOPMED ss3105116944 Nov 08, 2017 (151)
68 TOPMED ss3105116945 Nov 08, 2017 (151)
69 CSHL ss3343943065 Nov 08, 2017 (151)
70 ILLUMINA ss3626323444 Oct 11, 2018 (152)
71 ILLUMINA ss3636055073 Oct 11, 2018 (152)
72 OMUKHERJEE_ADBS ss3646254284 Oct 11, 2018 (152)
73 EGCUT_WGS ss3656518682 Jul 12, 2019 (153)
74 EVA_DECODE ss3688758737 Jul 12, 2019 (153)
75 ACPOP ss3727920154 Jul 12, 2019 (153)
76 EVA ss3747417565 Jul 12, 2019 (153)
77 KHV_HUMAN_GENOMES ss3800420399 Jul 12, 2019 (153)
78 EVA ss3823721721 Apr 25, 2020 (154)
79 EVA ss3825589471 Apr 25, 2020 (154)
80 EVA ss3826678159 Apr 25, 2020 (154)
81 EVA ss3836741147 Apr 25, 2020 (154)
82 EVA ss3842153412 Apr 25, 2020 (154)
83 SGDP_PRJ ss3851034981 Apr 25, 2020 (154)
84 KRGDB ss3896371750 Apr 25, 2020 (154)
85 KOGIC ss3946626985 Apr 25, 2020 (154)
86 FSA-LAB ss3983965177 Apr 25, 2021 (155)
87 FSA-LAB ss3983965178 Apr 25, 2021 (155)
88 EVA ss3984473082 Apr 25, 2021 (155)
89 EVA ss3986015760 Apr 25, 2021 (155)
90 EVA ss3986161503 Apr 25, 2021 (155)
91 TOPMED ss4485900319 Apr 25, 2021 (155)
92 TOMMO_GENOMICS ss5148735646 Apr 25, 2021 (155)
93 EVA ss5236879298 Apr 25, 2021 (155)
94 1000Genomes NC_000001.10 - 226589958 Oct 11, 2018 (152)
95 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 226589958 Oct 11, 2018 (152)
96 Chileans NC_000001.10 - 226589958 Apr 25, 2020 (154)
97 Genetic variation in the Estonian population NC_000001.10 - 226589958 Oct 11, 2018 (152)
98 ExAC NC_000001.10 - 226589958 Oct 11, 2018 (152)
99 FINRISK NC_000001.10 - 226589958 Apr 25, 2020 (154)
100 The Danish reference pan genome NC_000001.10 - 226589958 Apr 25, 2020 (154)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 41489430 (NC_000001.11:226402256:G:A 24861/140144)
Row 41489431 (NC_000001.11:226402256:G:C 5/140172)

- Apr 25, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 41489430 (NC_000001.11:226402256:G:A 24861/140144)
Row 41489431 (NC_000001.11:226402256:G:C 5/140172)

- Apr 25, 2021 (155)
103 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1356330 (NC_000001.10:226589957:G:G 196477/251372, NC_000001.10:226589957:G:A 54895/251372)
Row 1356331 (NC_000001.10:226589957:G:G 251371/251372, NC_000001.10:226589957:G:C 1/251372)

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

Submission ignored due to conflicting rows:
Row 1356330 (NC_000001.10:226589957:G:G 196477/251372, NC_000001.10:226589957:G:A 54895/251372)
Row 1356331 (NC_000001.10:226589957:G:G 251371/251372, NC_000001.10:226589957:G:C 1/251372)

- Jul 12, 2019 (153)
105 GO Exome Sequencing Project NC_000001.10 - 226589958 Oct 11, 2018 (152)
106 Genome of the Netherlands Release 5 NC_000001.10 - 226589958 Apr 25, 2020 (154)
107 HapMap NC_000001.11 - 226402257 Apr 25, 2020 (154)
108 KOREAN population from KRGDB NC_000001.10 - 226589958 Apr 25, 2020 (154)
109 Korean Genome Project NC_000001.11 - 226402257 Apr 25, 2020 (154)
110 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 226589958 Apr 25, 2020 (154)
111 Northern Sweden NC_000001.10 - 226589958 Jul 12, 2019 (153)
112 CNV burdens in cranial meningiomas NC_000001.10 - 226589958 Apr 25, 2021 (155)
113 Qatari NC_000001.10 - 226589958 Apr 25, 2020 (154)
114 SGDP_PRJ NC_000001.10 - 226589958 Apr 25, 2020 (154)
115 Siberian NC_000001.10 - 226589958 Apr 25, 2020 (154)
116 8.3KJPN NC_000001.10 - 226589958 Apr 25, 2021 (155)
117 TopMed NC_000001.11 - 226402257 Apr 25, 2021 (155)
118 UK 10K study - Twins NC_000001.10 - 226589958 Oct 11, 2018 (152)
119 A Vietnamese Genetic Variation Database NC_000001.10 - 226589958 Jul 12, 2019 (153)
120 ALFA NC_000001.11 - 226402257 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)
rs2230481 Jan 04, 2002 (102)
rs3738709 Oct 09, 2002 (108)
rs17853761 Mar 10, 2006 (126)
rs56579395 May 25, 2008 (130)
rs117156668 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss108999545, ss167543547, ss199689423, ss253867772, ss276244222, ss491616399, ss1585611777, ss1712410449 NC_000001.9:224656580:G:A NC_000001.11:226402256:G:A (self)
5776571, 3192558, 34741, 2256930, 5321384, 11927, 1913216, 180230, 1395175, 3549144, 62614, 1205019, 22403, 1477829, 3051961, 793092, 6704953, 3192558, 693389, ss218916148, ss230928932, ss238536705, ss342033498, ss481069118, ss489794822, ss536542221, ss555178984, ss648750655, ss974439995, ss976213857, ss1067432561, ss1068654086, ss1294912465, ss1574721955, ss1584015466, ss1602279628, ss1645273661, ss1686082621, ss1710945862, ss1795818749, ss1919435899, ss1966989403, ss2020242416, ss2148276738, ss2333270860, ss2624632505, ss2698274942, ss2732319306, ss2746575367, ss2766966669, ss2988559716, ss3343943065, ss3626323444, ss3636055073, ss3646254284, ss3656518682, ss3727920154, ss3747417565, ss3823721721, ss3825589471, ss3826678159, ss3836741147, ss3851034981, ss3896371750, ss3983965177, ss3983965178, ss3984473082, ss3986015760, ss3986161503, ss5148735646 NC_000001.10:226589957:G:A NC_000001.11:226402256:G:A (self)
282218, 3004986, 31111213, 49506654, 1610451405, ss2170629888, ss3023881621, ss3105116944, ss3688758737, ss3800420399, ss3842153412, ss3946626985, ss4485900319, ss5236879298 NC_000001.11:226402256:G:A NC_000001.11:226402256:G:A (self)
ss13004660 NT_004559.10:103275:G:A NC_000001.11:226402256:G:A (self)
ss16441563 NT_004559.11:2766151:G:A NC_000001.11:226402256:G:A (self)
ss2667848, ss3188747, ss3807460, ss4480397, ss4924709, ss5586196, ss6404826, ss16230518, ss22886566, ss28508063, ss41185532, ss66860125, ss76610950, ss76877459, ss86237648, ss86342312, ss95212955, ss104853778, ss106636552, ss156365127, ss159700722, ss160463332 NT_167186.1:20107736:G:A NC_000001.11:226402256:G:A (self)
ss2732319306 NC_000001.10:226589957:G:C NC_000001.11:226402256:G:C (self)
1610451405, ss2170629888, ss3105116945 NC_000001.11:226402256:G:C NC_000001.11:226402256: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.

6 citations for rs1805404
PMID Title Author Year Journal
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
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
27462201 From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research. Pagliaroli L et al. 2016 Frontiers in neuroscience
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.post596+ae089ad