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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.

rs1805408

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:226385701 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.240625 (63691/264690, TOPMED)
C=0.191174 (47980/250976, GnomAD_exome)
C=0.235551 (32979/140008, GnomAD) (+ 23 more)
C=0.196456 (23779/121040, ExAC)
C=0.18902 (6615/34996, ALFA)
C=0.30514 (8622/28256, 14KJPN)
C=0.30740 (5152/16760, 8.3KJPN)
C=0.24912 (3240/13006, GO-ESP)
C=0.2664 (1706/6404, 1000G_30x)
C=0.2630 (1317/5008, 1000G)
C=0.1542 (691/4480, Estonian)
C=0.1637 (631/3854, ALSPAC)
C=0.1599 (593/3708, TWINSUK)
C=0.2901 (850/2930, KOREAN)
C=0.2803 (527/1880, HapMap)
C=0.2909 (533/1832, Korea1K)
C=0.166 (166/998, GoNL)
C=0.099 (62/626, Chileans)
C=0.376 (231/614, Vietnamese)
C=0.130 (78/600, NorthernSweden)
C=0.161 (86/534, MGP)
C=0.166 (50/302, FINRISK)
C=0.185 (40/216, Qatari)
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
0 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 34996 T=0.81098 C=0.18902
European Sub 23504 T=0.83943 C=0.16057
African Sub 4254 T=0.6110 C=0.3890
African Others Sub 134 T=0.500 C=0.500
African American Sub 4120 T=0.6146 C=0.3854
Asian Sub 220 T=0.673 C=0.327
East Asian Sub 130 T=0.685 C=0.315
Other Asian Sub 90 T=0.66 C=0.34
Latin American 1 Sub 296 T=0.791 C=0.209
Latin American 2 Sub 2730 T=0.8729 C=0.1271
South Asian Sub 110 T=0.836 C=0.164
Other Sub 3882 T=0.8230 C=0.1770


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=0.759375 C=0.240625
gnomAD - Exomes Global Study-wide 250976 T=0.808826 C=0.191174
gnomAD - Exomes European Sub 134982 T=0.831481 C=0.168519
gnomAD - Exomes Asian Sub 48986 T=0.75936 C=0.24064
gnomAD - Exomes American Sub 34584 T=0.87512 C=0.12488
gnomAD - Exomes African Sub 16224 T=0.59350 C=0.40650
gnomAD - Exomes Ashkenazi Jewish Sub 10074 T=0.85309 C=0.14691
gnomAD - Exomes Other Sub 6126 T=0.8284 C=0.1716
gnomAD - Genomes Global Study-wide 140008 T=0.764449 C=0.235551
gnomAD - Genomes European Sub 75850 T=0.83239 C=0.16761
gnomAD - Genomes African Sub 41926 T=0.61155 C=0.38845
gnomAD - Genomes American Sub 13644 T=0.85774 C=0.14226
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.8636 C=0.1364
gnomAD - Genomes East Asian Sub 3120 T=0.6494 C=0.3506
gnomAD - Genomes Other Sub 2148 T=0.7709 C=0.2291
ExAC Global Study-wide 121040 T=0.803544 C=0.196456
ExAC Europe Sub 73136 T=0.83386 C=0.16614
ExAC Asian Sub 25096 T=0.76494 C=0.23506
ExAC American Sub 11558 T=0.87524 C=0.12476
ExAC African Sub 10346 T=0.60072 C=0.39928
ExAC Other Sub 904 T=0.827 C=0.173
Allele Frequency Aggregator Total Global 34996 T=0.81098 C=0.18902
Allele Frequency Aggregator European Sub 23504 T=0.83943 C=0.16057
Allele Frequency Aggregator African Sub 4254 T=0.6110 C=0.3890
Allele Frequency Aggregator Other Sub 3882 T=0.8230 C=0.1770
Allele Frequency Aggregator Latin American 2 Sub 2730 T=0.8729 C=0.1271
Allele Frequency Aggregator Latin American 1 Sub 296 T=0.791 C=0.209
Allele Frequency Aggregator Asian Sub 220 T=0.673 C=0.327
Allele Frequency Aggregator South Asian Sub 110 T=0.836 C=0.164
14KJPN JAPANESE Study-wide 28256 T=0.69486 C=0.30514
8.3KJPN JAPANESE Study-wide 16760 T=0.69260 C=0.30740
GO Exome Sequencing Project Global Study-wide 13006 T=0.75088 C=0.24912
GO Exome Sequencing Project European American Sub 8600 T=0.8220 C=0.1780
GO Exome Sequencing Project African American Sub 4406 T=0.6121 C=0.3879
1000Genomes_30x Global Study-wide 6404 T=0.7336 C=0.2664
1000Genomes_30x African Sub 1786 T=0.5761 C=0.4239
1000Genomes_30x Europe Sub 1266 T=0.8239 C=0.1761
1000Genomes_30x South Asian Sub 1202 T=0.8195 C=0.1805
1000Genomes_30x East Asian Sub 1170 T=0.6846 C=0.3154
1000Genomes_30x American Sub 980 T=0.857 C=0.143
1000Genomes Global Study-wide 5008 T=0.7370 C=0.2630
1000Genomes African Sub 1322 T=0.5840 C=0.4160
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=0.8458 C=0.1542
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8363 C=0.1637
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8401 C=0.1599
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7099 C=0.2901
HapMap Global Study-wide 1880 T=0.7197 C=0.2803
HapMap American Sub 768 T=0.753 C=0.247
HapMap African Sub 682 T=0.645 C=0.355
HapMap Asian Sub 254 T=0.744 C=0.256
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
Chileans Chilean Study-wide 626 T=0.901 C=0.099
A Vietnamese Genetic Variation Database Global Study-wide 614 T=0.624 C=0.376
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 302 T=0.834 C=0.166
Qatari Global Study-wide 216 T=0.815 C=0.185
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

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.226385701T>C
GRCh37.p13 chr 1 NC_000001.10:g.226573402T>C
Gene: PARP1, poly(ADP-ribose) polymerase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PARP1 transcript NM_001618.4:c.835-21A>G N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
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= C
GRCh38.p14 chr 1 NC_000001.11:g.226385701= NC_000001.11:g.226385701T>C
GRCh37.p13 chr 1 NC_000001.10:g.226573402= NC_000001.10:g.226573402T>C
PARP1 transcript NM_001618.3:c.835-21= NM_001618.3:c.835-21A>G
PARP1 transcript NM_001618.4:c.835-21= NM_001618.4:c.835-21A>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#.

93 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 UWGC ss2667853 Jan 12, 2001 (92)
2 HGBASE ss3182325 Aug 15, 2001 (98)
3 EGP_SNPS ss4480441 Jul 03, 2002 (106)
4 YUSUKE ss4924711 Aug 28, 2002 (108)
5 SNP500CANCER ss5586200 Mar 31, 2003 (113)
6 SC_SNP ss15382305 Feb 27, 2004 (120)
7 IMCJ-GDT ss22886569 Apr 05, 2004 (123)
8 PERLEGEN ss23858663 Sep 20, 2004 (123)
9 AFFY ss66141894 Nov 29, 2006 (127)
10 AFFY ss76160638 Dec 07, 2007 (129)
11 HGSV ss81105454 Dec 15, 2007 (130)
12 KRIBB_YJKIM ss81587243 Dec 15, 2007 (130)
13 HGSV ss81666326 Dec 15, 2007 (130)
14 1000GENOMES ss111868148 Jan 25, 2009 (130)
15 ILLUMINA-UK ss119229510 Feb 15, 2009 (130)
16 GMI ss156364903 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss165300495 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss165860163 Jul 04, 2010 (132)
19 AFFY ss172674622 Jul 04, 2010 (132)
20 BUSHMAN ss199689242 Jul 04, 2010 (132)
21 1000GENOMES ss218916088 Jul 14, 2010 (132)
22 1000GENOMES ss230928888 Jul 14, 2010 (132)
23 1000GENOMES ss238536661 Jul 15, 2010 (132)
24 GMI ss276244175 May 04, 2012 (137)
25 PJP ss290747268 May 09, 2011 (134)
26 1000GENOMES ss489794792 May 04, 2012 (137)
27 CLINSEQ_SNP ss491616381 May 04, 2012 (137)
28 ILLUMINA ss533216498 Sep 08, 2015 (146)
29 TISHKOFF ss555178901 Apr 25, 2013 (138)
30 SSMP ss648750585 Apr 25, 2013 (138)
31 NHLBI-ESP ss712388629 Apr 25, 2013 (138)
32 JMKIDD_LAB ss974439991 Aug 21, 2014 (142)
33 EVA-GONL ss976213740 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1067432554 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1068653990 Aug 21, 2014 (142)
36 1000GENOMES ss1294911989 Aug 21, 2014 (142)
37 EVA_GENOME_DK ss1574721913 Apr 01, 2015 (144)
38 EVA_FINRISK ss1584015461 Apr 01, 2015 (144)
39 EVA_DECODE ss1585611666 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1602279380 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1645273413 Apr 01, 2015 (144)
42 EVA_EXAC ss1686082362 Apr 01, 2015 (144)
43 EVA_MGP ss1710945839 Apr 01, 2015 (144)
44 EVA_SVP ss1712410438 Apr 01, 2015 (144)
45 HAMMER_LAB ss1795818605 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1919435797 Feb 12, 2016 (147)
47 JJLAB ss2020242362 Sep 14, 2016 (149)
48 USC_VALOUEV ss2148276679 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2170628857 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2624632466 Nov 08, 2017 (151)
51 GRF ss2698274870 Nov 08, 2017 (151)
52 GNOMAD ss2732318953 Nov 08, 2017 (151)
53 GNOMAD ss2746575255 Nov 08, 2017 (151)
54 GNOMAD ss2766965377 Nov 08, 2017 (151)
55 SWEGEN ss2988559558 Nov 08, 2017 (151)
56 BIOINF_KMB_FNS_UNIBA ss3023881583 Nov 08, 2017 (151)
57 CSHL ss3343943020 Nov 08, 2017 (151)
58 ILLUMINA ss3626323414 Oct 11, 2018 (152)
59 OMUKHERJEE_ADBS ss3646254272 Oct 11, 2018 (152)
60 EGCUT_WGS ss3656518494 Jul 12, 2019 (153)
61 EVA_DECODE ss3688758528 Jul 12, 2019 (153)
62 ACPOP ss3727920071 Jul 12, 2019 (153)
63 EVA ss3747417415 Jul 12, 2019 (153)
64 KHV_HUMAN_GENOMES ss3800420259 Jul 12, 2019 (153)
65 EVA ss3823721673 Apr 25, 2020 (154)
66 EVA ss3825589460 Apr 25, 2020 (154)
67 EVA ss3826678104 Apr 25, 2020 (154)
68 EVA ss3836741106 Apr 25, 2020 (154)
69 EVA ss3842153369 Apr 25, 2020 (154)
70 SGDP_PRJ ss3851034775 Apr 25, 2020 (154)
71 KRGDB ss3896371484 Apr 25, 2020 (154)
72 KOGIC ss3946626737 Apr 25, 2020 (154)
73 FSA-LAB ss3983965155 Apr 25, 2021 (155)
74 FSA-LAB ss3983965156 Apr 25, 2021 (155)
75 EVA ss3986161477 Apr 25, 2021 (155)
76 TOPMED ss4485896026 Apr 25, 2021 (155)
77 TOMMO_GENOMICS ss5148735136 Apr 25, 2021 (155)
78 1000G_HIGH_COVERAGE ss5246025924 Oct 12, 2022 (156)
79 EVA ss5325209367 Oct 12, 2022 (156)
80 HUGCELL_USP ss5446438025 Oct 12, 2022 (156)
81 EVA ss5506212454 Oct 12, 2022 (156)
82 1000G_HIGH_COVERAGE ss5520239873 Oct 12, 2022 (156)
83 EVA ss5624003759 Oct 12, 2022 (156)
84 SANFORD_IMAGENETICS ss5627577258 Oct 12, 2022 (156)
85 TOMMO_GENOMICS ss5676581755 Oct 12, 2022 (156)
86 EVA ss5799412576 Oct 12, 2022 (156)
87 EVA ss5800090534 Oct 12, 2022 (156)
88 YY_MCH ss5801697573 Oct 12, 2022 (156)
89 EVA ss5833355037 Oct 12, 2022 (156)
90 EVA ss5848287299 Oct 12, 2022 (156)
91 EVA ss5849314811 Oct 12, 2022 (156)
92 EVA ss5912236344 Oct 12, 2022 (156)
93 EVA ss5939421262 Oct 12, 2022 (156)
94 1000Genomes NC_000001.10 - 226573402 Oct 11, 2018 (152)
95 1000Genomes_30x NC_000001.11 - 226385701 Oct 12, 2022 (156)
96 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 226573402 Oct 11, 2018 (152)
97 Chileans NC_000001.10 - 226573402 Apr 25, 2020 (154)
98 Genetic variation in the Estonian population NC_000001.10 - 226573402 Oct 11, 2018 (152)
99 ExAC NC_000001.10 - 226573402 Oct 11, 2018 (152)
100 FINRISK NC_000001.10 - 226573402 Apr 25, 2020 (154)
101 The Danish reference pan genome NC_000001.10 - 226573402 Apr 25, 2020 (154)
102 gnomAD - Genomes NC_000001.11 - 226385701 Apr 25, 2021 (155)
103 gnomAD - Exomes NC_000001.10 - 226573402 Jul 12, 2019 (153)
104 GO Exome Sequencing Project NC_000001.10 - 226573402 Oct 11, 2018 (152)
105 Genome of the Netherlands Release 5 NC_000001.10 - 226573402 Apr 25, 2020 (154)
106 HapMap NC_000001.11 - 226385701 Apr 25, 2020 (154)
107 KOREAN population from KRGDB NC_000001.10 - 226573402 Apr 25, 2020 (154)
108 Korean Genome Project NC_000001.11 - 226385701 Apr 25, 2020 (154)
109 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 226573402 Apr 25, 2020 (154)
110 Northern Sweden NC_000001.10 - 226573402 Jul 12, 2019 (153)
111 Qatari NC_000001.10 - 226573402 Apr 25, 2020 (154)
112 SGDP_PRJ NC_000001.10 - 226573402 Apr 25, 2020 (154)
113 Siberian NC_000001.10 - 226573402 Apr 25, 2020 (154)
114 8.3KJPN NC_000001.10 - 226573402 Apr 25, 2021 (155)
115 14KJPN NC_000001.11 - 226385701 Oct 12, 2022 (156)
116 TopMed NC_000001.11 - 226385701 Apr 25, 2021 (155)
117 UK 10K study - Twins NC_000001.10 - 226573402 Oct 11, 2018 (152)
118 A Vietnamese Genetic Variation Database NC_000001.10 - 226573402 Jul 12, 2019 (153)
119 ALFA NC_000001.11 - 226385701 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)
rs3738711 Oct 09, 2002 (108)
rs13306131 Sep 24, 2004 (123)
rs16845841 Oct 07, 2004 (123)
rs60513507 May 26, 2008 (130)
rs60853669 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81105454, ss81666326 NC_000001.8:222880136:T:C NC_000001.11:226385700:T:C (self)
ss66141894, ss76160638, ss111868148, ss119229510, ss165300495, ss165860163, ss172674622, ss199689242, ss276244175, ss290747268, ss491616381, ss1585611666, ss1712410438 NC_000001.9:224640024:T:C NC_000001.11:226385700:T:C (self)
5776077, 3192291, 34736, 2256742, 5321112, 11922, 1913174, 1355953, 180182, 1395058, 3548878, 62591, 1204936, 1477727, 3051755, 793033, 6704443, 3192291, 693326, ss218916088, ss230928888, ss238536661, ss489794792, ss533216498, ss555178901, ss648750585, ss712388629, ss974439991, ss976213740, ss1067432554, ss1068653990, ss1294911989, ss1574721913, ss1584015461, ss1602279380, ss1645273413, ss1686082362, ss1710945839, ss1795818605, ss1919435797, ss2020242362, ss2148276679, ss2624632466, ss2698274870, ss2732318953, ss2746575255, ss2766965377, ss2988559558, ss3343943020, ss3626323414, ss3646254272, ss3656518494, ss3727920071, ss3747417415, ss3823721673, ss3825589460, ss3826678104, ss3836741106, ss3851034775, ss3896371484, ss3983965155, ss3983965156, ss3986161477, ss5148735136, ss5325209367, ss5506212454, ss5624003759, ss5627577258, ss5799412576, ss5800090534, ss5833355037, ss5848287299, ss5939421262 NC_000001.10:226573401:T:C NC_000001.11:226385700:T:C (self)
7765808, 41486070, 282176, 3004738, 10418859, 49502361, 8943795202, ss2170628857, ss3023881583, ss3688758528, ss3800420259, ss3842153369, ss3946626737, ss4485896026, ss5246025924, ss5446438025, ss5520239873, ss5676581755, ss5801697573, ss5849314811, ss5912236344 NC_000001.11:226385700:T:C NC_000001.11:226385700:T:C (self)
ss15382305 NT_004559.11:2749595:T:C NC_000001.11:226385700:T:C (self)
ss2667853, ss3182325, ss4480441, ss4924711, ss5586200, ss22886569, ss23858663, ss81587243, ss156364903 NT_167186.1:20091180:T:C NC_000001.11:226385700: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.

No publications for rs1805408

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