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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.

rs1967397

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:21252708 (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=0.284461 (75294/264690, TOPMED)
C=0.095129 (17798/187094, ALFA)
C=0.263143 (36670/139354, GnomAD) (+ 18 more)
C=0.14718 (4159/28258, 14KJPN)
C=0.14606 (2448/16760, 8.3KJPN)
C=0.3401 (2178/6404, 1000G_30x)
C=0.3323 (1664/5008, 1000G)
C=0.0500 (224/4480, Estonian)
C=0.0724 (279/3854, ALSPAC)
C=0.0739 (274/3708, TWINSUK)
C=0.1167 (341/2922, KOREAN)
C=0.1250 (229/1832, Korea1K)
C=0.055 (55/998, GoNL)
C=0.140 (110/788, PRJEB37584)
C=0.070 (42/600, NorthernSweden)
C=0.194 (42/216, Qatari)
C=0.212 (45/212, Vietnamese)
T=0.367 (66/180, SGDP_PRJ)
C=0.10 (4/40, GENOME_DK)
T=0.5 (2/4, Siberian)
C=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KCNIP4 : 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 187310 T=0.904858 C=0.095142
European Sub 163674 T=0.923598 C=0.076402
African Sub 4140 T=0.3418 C=0.6582
African Others Sub 178 T=0.197 C=0.803
African American Sub 3962 T=0.3483 C=0.6517
Asian Sub 6272 T=0.8718 C=0.1282
East Asian Sub 4452 T=0.8657 C=0.1343
Other Asian Sub 1820 T=0.8868 C=0.1132
Latin American 1 Sub 464 T=0.767 C=0.233
Latin American 2 Sub 1040 T=0.8144 C=0.1856
South Asian Sub 290 T=0.783 C=0.217
Other Sub 11430 T=0.87550 C=0.12450


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=0.715539 C=0.284461
Allele Frequency Aggregator Total Global 187094 T=0.904871 C=0.095129
Allele Frequency Aggregator European Sub 163494 T=0.923569 C=0.076431
Allele Frequency Aggregator Other Sub 11408 T=0.87535 C=0.12465
Allele Frequency Aggregator Asian Sub 6272 T=0.8718 C=0.1282
Allele Frequency Aggregator African Sub 4126 T=0.3427 C=0.6573
Allele Frequency Aggregator Latin American 2 Sub 1040 T=0.8144 C=0.1856
Allele Frequency Aggregator Latin American 1 Sub 464 T=0.767 C=0.233
Allele Frequency Aggregator South Asian Sub 290 T=0.783 C=0.217
gnomAD - Genomes Global Study-wide 139354 T=0.736857 C=0.263143
gnomAD - Genomes European Sub 75646 T=0.92661 C=0.07339
gnomAD - Genomes African Sub 41584 T=0.35146 C=0.64854
gnomAD - Genomes American Sub 13552 T=0.79029 C=0.20971
gnomAD - Genomes Ashkenazi Jewish Sub 3316 T=0.9131 C=0.0869
gnomAD - Genomes East Asian Sub 3126 T=0.8471 C=0.1529
gnomAD - Genomes Other Sub 2130 T=0.7460 C=0.2540
14KJPN JAPANESE Study-wide 28258 T=0.85282 C=0.14718
8.3KJPN JAPANESE Study-wide 16760 T=0.85394 C=0.14606
1000Genomes_30x Global Study-wide 6404 T=0.6599 C=0.3401
1000Genomes_30x African Sub 1786 T=0.2660 C=0.7340
1000Genomes_30x Europe Sub 1266 T=0.9084 C=0.0916
1000Genomes_30x South Asian Sub 1202 T=0.7438 C=0.2562
1000Genomes_30x East Asian Sub 1170 T=0.8179 C=0.1821
1000Genomes_30x American Sub 980 T=0.765 C=0.235
1000Genomes Global Study-wide 5008 T=0.6677 C=0.3323
1000Genomes African Sub 1322 T=0.2746 C=0.7254
1000Genomes East Asian Sub 1008 T=0.8194 C=0.1806
1000Genomes Europe Sub 1006 T=0.9056 C=0.0944
1000Genomes South Asian Sub 978 T=0.735 C=0.265
1000Genomes American Sub 694 T=0.756 C=0.244
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9500 C=0.0500
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9276 C=0.0724
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9261 C=0.0739
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.8833 C=0.1167
Korean Genome Project KOREAN Study-wide 1832 T=0.8750 C=0.1250
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.945 C=0.055
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.860 C=0.140
CNV burdens in cranial meningiomas CRM Sub 788 T=0.860 C=0.140
Northern Sweden ACPOP Study-wide 600 T=0.930 C=0.070
Qatari Global Study-wide 216 T=0.806 C=0.194
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.788 C=0.212
SGDP_PRJ Global Study-wide 180 T=0.367 C=0.633
The Danish reference pan genome Danish Study-wide 40 T=0.90 C=0.10
Siberian Global Study-wide 4 T=0.5 C=0.5
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 4 NC_000004.12:g.21252708T>C
GRCh37.p13 chr 4 NC_000004.11:g.21254331T>C
KCNIP4 RefSeqGene NG_052969.1:g.701044A>G
Gene: KCNIP4, potassium voltage-gated channel interacting protein 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KCNIP4 transcript variant 5 NM_001035003.2:c.89-40204…

NM_001035003.2:c.89-402041A>G

N/A Intron Variant
KCNIP4 transcript variant 6 NM_001035004.2:c.-24+2916…

NM_001035004.2:c.-24+291682A>G

N/A Intron Variant
KCNIP4 transcript variant 1 NM_025221.6:c.62-369999A>G N/A Intron Variant
KCNIP4 transcript variant 2 NM_147181.4:c.62-402041A>G N/A Intron Variant
KCNIP4 transcript variant 3 NM_147182.4:c.-23-402041A…

NM_147182.4:c.-23-402041A>G

N/A Intron Variant
KCNIP4 transcript variant 4 NM_147183.3:c.100+51099A>G N/A Intron Variant
KCNIP4 transcript variant 7 NM_001363504.2:c. N/A Genic Upstream Transcript Variant
KCNIP4 transcript variant X1 XM_011513885.4:c.89-40204…

XM_011513885.4:c.89-402041A>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 4 NC_000004.12:g.21252708= NC_000004.12:g.21252708T>C
GRCh37.p13 chr 4 NC_000004.11:g.21254331= NC_000004.11:g.21254331T>C
KCNIP4 RefSeqGene NG_052969.1:g.701044= NG_052969.1:g.701044A>G
KCNIP4 transcript variant 5 NM_001035003.1:c.89-402041= NM_001035003.1:c.89-402041A>G
KCNIP4 transcript variant 5 NM_001035003.2:c.89-402041= NM_001035003.2:c.89-402041A>G
KCNIP4 transcript variant 6 NM_001035004.1:c.-24+291682= NM_001035004.1:c.-24+291682A>G
KCNIP4 transcript variant 6 NM_001035004.2:c.-24+291682= NM_001035004.2:c.-24+291682A>G
KCNIP4 transcript variant 1 NM_025221.5:c.62-369999= NM_025221.5:c.62-369999A>G
KCNIP4 transcript variant 1 NM_025221.6:c.62-369999= NM_025221.6:c.62-369999A>G
KCNIP4 transcript variant 2 NM_147181.3:c.62-402041= NM_147181.3:c.62-402041A>G
KCNIP4 transcript variant 2 NM_147181.4:c.62-402041= NM_147181.4:c.62-402041A>G
KCNIP4 transcript variant 3 NM_147182.3:c.-23-402041= NM_147182.3:c.-23-402041A>G
KCNIP4 transcript variant 3 NM_147182.4:c.-23-402041= NM_147182.4:c.-23-402041A>G
KCNIP4 transcript variant 4 NM_147183.3:c.100+51099= NM_147183.3:c.100+51099A>G
KCNIP4 transcript variant X2 XM_005248189.1:c.100+51099= XM_005248189.1:c.100+51099A>G
KCNIP4 transcript variant X4 XM_005248191.1:c.62-402041= XM_005248191.1:c.62-402041A>G
KCNIP4 transcript variant X1 XM_011513885.4:c.89-402041= XM_011513885.4:c.89-402041A>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#.

95 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2871093 Jan 12, 2001 (92)
2 TSC-CSHL ss5163249 Oct 10, 2002 (110)
3 ABI ss44479614 Mar 13, 2006 (126)
4 AFFY ss76709724 Dec 06, 2007 (129)
5 HGSV ss81831641 Dec 16, 2007 (130)
6 HGSV ss84277505 Dec 16, 2007 (130)
7 1000GENOMES ss111904744 Jan 25, 2009 (130)
8 1000GENOMES ss112977087 Jan 25, 2009 (130)
9 ILLUMINA-UK ss116902836 Feb 14, 2009 (130)
10 GMI ss156955475 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss163188115 Jul 04, 2010 (132)
12 BUSHMAN ss198165892 Jul 04, 2010 (132)
13 1000GENOMES ss220787207 Jul 14, 2010 (132)
14 1000GENOMES ss232292846 Jul 14, 2010 (132)
15 1000GENOMES ss239606393 Jul 15, 2010 (132)
16 GMI ss277606265 May 04, 2012 (137)
17 ILLUMINA ss479935916 May 04, 2012 (137)
18 ILLUMINA ss484787483 May 04, 2012 (137)
19 EXOME_CHIP ss491354345 May 04, 2012 (137)
20 ILLUMINA ss533406604 Sep 08, 2015 (146)
21 TISHKOFF ss557363118 Apr 25, 2013 (138)
22 SSMP ss651130555 Apr 25, 2013 (138)
23 ILLUMINA ss779679667 Aug 21, 2014 (142)
24 ILLUMINA ss780800601 Aug 21, 2014 (142)
25 ILLUMINA ss781105627 Aug 21, 2014 (142)
26 ILLUMINA ss783481979 Aug 21, 2014 (142)
27 ILLUMINA ss835153308 Aug 21, 2014 (142)
28 EVA-GONL ss979853060 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1071338973 Aug 21, 2014 (142)
30 1000GENOMES ss1308755614 Aug 21, 2014 (142)
31 EVA_GENOME_DK ss1580449920 Apr 01, 2015 (144)
32 EVA_DECODE ss1589343221 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1609581630 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1652575663 Apr 01, 2015 (144)
35 ILLUMINA ss1752516084 Sep 08, 2015 (146)
36 HAMMER_LAB ss1801107802 Sep 08, 2015 (146)
37 ILLUMINA ss1917779230 Feb 12, 2016 (147)
38 WEILL_CORNELL_DGM ss1923088991 Feb 12, 2016 (147)
39 ILLUMINA ss1946111747 Feb 12, 2016 (147)
40 ILLUMINA ss1958666752 Feb 12, 2016 (147)
41 GENOMED ss1969678759 Jul 19, 2016 (147)
42 JJLAB ss2022120576 Sep 14, 2016 (149)
43 USC_VALOUEV ss2150230342 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2261066286 Dec 20, 2016 (150)
45 ILLUMINA ss2634091694 Nov 08, 2017 (151)
46 ILLUMINA ss2634091695 Nov 08, 2017 (151)
47 GRF ss2705676754 Nov 08, 2017 (151)
48 GNOMAD ss2806536775 Nov 08, 2017 (151)
49 AFFY ss2985287876 Nov 08, 2017 (151)
50 AFFY ss2985910320 Nov 08, 2017 (151)
51 SWEGEN ss2994271790 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3024829421 Nov 08, 2017 (151)
53 CSHL ss3345584557 Nov 08, 2017 (151)
54 ILLUMINA ss3628918444 Oct 12, 2018 (152)
55 ILLUMINA ss3628918445 Oct 12, 2018 (152)
56 ILLUMINA ss3632029920 Oct 12, 2018 (152)
57 ILLUMINA ss3634944042 Oct 12, 2018 (152)
58 ILLUMINA ss3640651338 Oct 12, 2018 (152)
59 ILLUMINA ss3642322220 Oct 12, 2018 (152)
60 ILLUMINA ss3644844476 Oct 12, 2018 (152)
61 ILLUMINA ss3654058297 Oct 12, 2018 (152)
62 EGCUT_WGS ss3662182715 Jul 13, 2019 (153)
63 EVA_DECODE ss3711568651 Jul 13, 2019 (153)
64 ACPOP ss3730929238 Jul 13, 2019 (153)
65 ILLUMINA ss3744523533 Jul 13, 2019 (153)
66 ILLUMINA ss3745244332 Jul 13, 2019 (153)
67 EVA ss3761500238 Jul 13, 2019 (153)
68 ILLUMINA ss3772739015 Jul 13, 2019 (153)
69 KHV_HUMAN_GENOMES ss3804631717 Jul 13, 2019 (153)
70 EVA ss3828411958 Apr 26, 2020 (154)
71 EVA ss3837639914 Apr 26, 2020 (154)
72 EVA ss3843074329 Apr 26, 2020 (154)
73 SGDP_PRJ ss3858394219 Apr 26, 2020 (154)
74 KRGDB ss3904550501 Apr 26, 2020 (154)
75 KOGIC ss3953682473 Apr 26, 2020 (154)
76 EVA ss3984524791 Apr 26, 2021 (155)
77 TOPMED ss4605585654 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5164562444 Apr 26, 2021 (155)
79 EVA ss5237344995 Apr 26, 2021 (155)
80 1000G_HIGH_COVERAGE ss5258328539 Oct 13, 2022 (156)
81 EVA ss5314941545 Oct 13, 2022 (156)
82 EVA ss5347422009 Oct 13, 2022 (156)
83 HUGCELL_USP ss5457198481 Oct 13, 2022 (156)
84 EVA ss5507417248 Oct 13, 2022 (156)
85 1000G_HIGH_COVERAGE ss5538911633 Oct 13, 2022 (156)
86 SANFORD_IMAGENETICS ss5624549628 Oct 13, 2022 (156)
87 SANFORD_IMAGENETICS ss5634513530 Oct 13, 2022 (156)
88 TOMMO_GENOMICS ss5698310566 Oct 13, 2022 (156)
89 YY_MCH ss5804830696 Oct 13, 2022 (156)
90 EVA ss5843662967 Oct 13, 2022 (156)
91 EVA ss5848003951 Oct 13, 2022 (156)
92 EVA ss5854114219 Oct 13, 2022 (156)
93 EVA ss5862470032 Oct 13, 2022 (156)
94 EVA ss5962896114 Oct 13, 2022 (156)
95 EVA ss5979693168 Oct 13, 2022 (156)
96 1000Genomes NC_000004.11 - 21254331 Oct 12, 2018 (152)
97 1000Genomes_30x NC_000004.12 - 21252708 Oct 13, 2022 (156)
98 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 21254331 Oct 12, 2018 (152)
99 Genetic variation in the Estonian population NC_000004.11 - 21254331 Oct 12, 2018 (152)
100 The Danish reference pan genome NC_000004.11 - 21254331 Apr 26, 2020 (154)
101 gnomAD - Genomes NC_000004.12 - 21252708 Apr 26, 2021 (155)
102 Genome of the Netherlands Release 5 NC_000004.11 - 21254331 Apr 26, 2020 (154)
103 KOREAN population from KRGDB NC_000004.11 - 21254331 Apr 26, 2020 (154)
104 Korean Genome Project NC_000004.12 - 21252708 Apr 26, 2020 (154)
105 Northern Sweden NC_000004.11 - 21254331 Jul 13, 2019 (153)
106 CNV burdens in cranial meningiomas NC_000004.11 - 21254331 Apr 26, 2021 (155)
107 Qatari NC_000004.11 - 21254331 Apr 26, 2020 (154)
108 SGDP_PRJ NC_000004.11 - 21254331 Apr 26, 2020 (154)
109 Siberian NC_000004.11 - 21254331 Apr 26, 2020 (154)
110 8.3KJPN NC_000004.11 - 21254331 Apr 26, 2021 (155)
111 14KJPN NC_000004.12 - 21252708 Oct 13, 2022 (156)
112 TopMed NC_000004.12 - 21252708 Apr 26, 2021 (155)
113 UK 10K study - Twins NC_000004.11 - 21254331 Oct 12, 2018 (152)
114 A Vietnamese Genetic Variation Database NC_000004.11 - 21254331 Jul 13, 2019 (153)
115 ALFA NC_000004.12 - 21252708 Apr 26, 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)
rs3926963 Dec 16, 2002 (110)
rs61084046 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81831641, ss84277505 NC_000004.9:20930599:T:C NC_000004.12:21252707:T:C (self)
ss111904744, ss112977087, ss116902836, ss163188115, ss198165892, ss277606265, ss484787483, ss1589343221 NC_000004.10:20863428:T:C NC_000004.12:21252707:T:C (self)
20114528, 11204935, 7920963, 6614859, 4931877, 11727895, 4214103, 74150, 5130921, 10411199, 2746696, 22531751, 11204935, 2450545, ss220787207, ss232292846, ss239606393, ss479935916, ss491354345, ss533406604, ss557363118, ss651130555, ss779679667, ss780800601, ss781105627, ss783481979, ss835153308, ss979853060, ss1071338973, ss1308755614, ss1580449920, ss1609581630, ss1652575663, ss1752516084, ss1801107802, ss1917779230, ss1923088991, ss1946111747, ss1958666752, ss1969678759, ss2022120576, ss2150230342, ss2634091694, ss2634091695, ss2705676754, ss2806536775, ss2985287876, ss2985910320, ss2994271790, ss3345584557, ss3628918444, ss3628918445, ss3632029920, ss3634944042, ss3640651338, ss3642322220, ss3644844476, ss3654058297, ss3662182715, ss3730929238, ss3744523533, ss3745244332, ss3761500238, ss3772739015, ss3828411958, ss3837639914, ss3858394219, ss3904550501, ss3984524791, ss5164562444, ss5237344995, ss5314941545, ss5347422009, ss5507417248, ss5624549628, ss5634513530, ss5843662967, ss5848003951, ss5962896114, ss5979693168 NC_000004.11:21254330:T:C NC_000004.12:21252707:T:C (self)
26437568, 142545635, 10060474, 32147670, 442963210, 7300256856, ss2261066286, ss3024829421, ss3711568651, ss3804631717, ss3843074329, ss3953682473, ss4605585654, ss5258328539, ss5457198481, ss5538911633, ss5698310566, ss5804830696, ss5854114219, ss5862470032 NC_000004.12:21252707:T:C NC_000004.12:21252707:T:C (self)
ss2871093, ss5163249, ss44479614, ss76709724, ss156955475 NT_006316.16:12436127:T:C NC_000004.12:21252707: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 rs1967397

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