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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs372279458

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:29604105 (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=0.000079 (21/264690, TOPMED)
G=0.000031 (7/228446, GnomAD_exome)
G=0.000135 (19/140290, GnomAD) (+ 5 more)
G=0.00007 (4/56150, ExAC)
G=0.00004 (1/28258, 14KJPN)
G=0.00021 (3/14528, ALFA)
G=0.0003 (2/6404, 1000G_30x)
G=0.0002 (1/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NF2 : Missense Variant
Publications
1 citation
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 14528 A=0.99979 G=0.00021
European Sub 9690 A=1.0000 G=0.0000
African Sub 3324 A=1.0000 G=0.0000
African Others Sub 114 A=1.000 G=0.000
African American Sub 3210 A=1.0000 G=0.0000
Asian Sub 112 A=0.991 G=0.009
East Asian Sub 86 A=1.00 G=0.00
Other Asian Sub 26 A=0.96 G=0.04
Latin American 1 Sub 146 A=1.000 G=0.000
Latin American 2 Sub 610 A=0.998 G=0.002
South Asian Sub 98 A=1.00 G=0.00
Other Sub 548 A=0.998 G=0.002


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=0.999921 G=0.000079
gnomAD - Exomes Global Study-wide 228446 A=0.999969 G=0.000031
gnomAD - Exomes European Sub 121030 A=1.000000 G=0.000000
gnomAD - Exomes Asian Sub 45754 A=0.99993 G=0.00007
gnomAD - Exomes American Sub 32360 A=0.99994 G=0.00006
gnomAD - Exomes African Sub 14020 A=0.99993 G=0.00007
gnomAD - Exomes Ashkenazi Jewish Sub 9548 A=1.0000 G=0.0000
gnomAD - Exomes Other Sub 5734 A=0.9998 G=0.0002
gnomAD - Genomes Global Study-wide 140290 A=0.999865 G=0.000135
gnomAD - Genomes European Sub 75960 A=1.00000 G=0.00000
gnomAD - Genomes African Sub 42066 A=0.99990 G=0.00010
gnomAD - Genomes American Sub 13654 A=0.99919 G=0.00081
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3132 A=0.9994 G=0.0006
gnomAD - Genomes Other Sub 2154 A=0.9991 G=0.0009
ExAC Global Study-wide 56150 A=0.99993 G=0.00007
ExAC Europe Sub 31930 A=1.00000 G=0.00000
ExAC Asian Sub 14692 A=0.99986 G=0.00014
ExAC African Sub 5378 A=1.0000 G=0.0000
ExAC American Sub 3754 A=0.9997 G=0.0003
ExAC Other Sub 396 A=0.997 G=0.003
14KJPN JAPANESE Study-wide 28258 A=0.99996 G=0.00004
Allele Frequency Aggregator Total Global 14528 A=0.99979 G=0.00021
Allele Frequency Aggregator European Sub 9690 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 3324 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.998 G=0.002
Allele Frequency Aggregator Other Sub 548 A=0.998 G=0.002
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 112 A=0.991 G=0.009
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=0.00
1000Genomes_30x Global Study-wide 6404 A=0.9997 G=0.0003
1000Genomes_30x African Sub 1786 A=1.0000 G=0.0000
1000Genomes_30x Europe Sub 1266 A=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 A=0.9983 G=0.0017
1000Genomes_30x East Asian Sub 1170 A=1.0000 G=0.0000
1000Genomes_30x American Sub 980 A=1.000 G=0.000
1000Genomes Global Study-wide 5008 A=0.9998 G=0.0002
1000Genomes African Sub 1322 A=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=1.0000 G=0.0000
1000Genomes South Asian Sub 978 A=0.999 G=0.001
1000Genomes American Sub 694 A=1.000 G=0.000
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 22 NC_000022.11:g.29604105A>G
GRCh38.p14 chr 22 NC_000022.11:g.29604105A>T
GRCh37.p13 chr 22 NC_000022.10:g.30000094A>G
GRCh37.p13 chr 22 NC_000022.10:g.30000094A>T
MERLIN RefSeqGene (LRG_511) NG_009057.1:g.5550A>G
MERLIN RefSeqGene (LRG_511) NG_009057.1:g.5550A>T
Gene: NF2, NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NF2 transcript variant 2 NM_016418.5:c.107A>G N [AAT] > S [AGT] Coding Sequence Variant
merlin isoform 2 NP_057502.2:p.Asn36Ser N (Asn) > S (Ser) Missense Variant
NF2 transcript variant 2 NM_016418.5:c.107A>T N [AAT] > I [ATT] Coding Sequence Variant
merlin isoform 2 NP_057502.2:p.Asn36Ile N (Asn) > I (Ile) Missense Variant
NF2 transcript variant 6 NM_181829.3:c.107A>G N [AAT] > S [AGT] Coding Sequence Variant
merlin isoform 6 NP_861967.1:p.Asn36Ser N (Asn) > S (Ser) Missense Variant
NF2 transcript variant 6 NM_181829.3:c.107A>T N [AAT] > I [ATT] Coding Sequence Variant
merlin isoform 6 NP_861967.1:p.Asn36Ile N (Asn) > I (Ile) Missense Variant
NF2 transcript variant 8 NM_181832.3:c.107A>G N [AAT] > S [AGT] Coding Sequence Variant
merlin isoform 2 NP_861970.1:p.Asn36Ser N (Asn) > S (Ser) Missense Variant
NF2 transcript variant 8 NM_181832.3:c.107A>T N [AAT] > I [ATT] Coding Sequence Variant
merlin isoform 2 NP_861970.1:p.Asn36Ile N (Asn) > I (Ile) Missense Variant
NF2 transcript variant 12 NM_181825.3:c.107A>G N [AAT] > S [AGT] Coding Sequence Variant
merlin isoform 2 NP_861546.1:p.Asn36Ser N (Asn) > S (Ser) Missense Variant
NF2 transcript variant 12 NM_181825.3:c.107A>T N [AAT] > I [ATT] Coding Sequence Variant
merlin isoform 2 NP_861546.1:p.Asn36Ile N (Asn) > I (Ile) Missense Variant
NF2 transcript variant 5 NM_181828.3:c.107A>G N [AAT] > S [AGT] Coding Sequence Variant
merlin isoform 5 NP_861966.1:p.Asn36Ser N (Asn) > S (Ser) Missense Variant
NF2 transcript variant 5 NM_181828.3:c.107A>T N [AAT] > I [ATT] Coding Sequence Variant
merlin isoform 5 NP_861966.1:p.Asn36Ile N (Asn) > I (Ile) Missense Variant
NF2 transcript variant 7 NM_181830.3:c.107A>G N [AAT] > S [AGT] Coding Sequence Variant
merlin isoform 7 NP_861968.1:p.Asn36Ser N (Asn) > S (Ser) Missense Variant
NF2 transcript variant 7 NM_181830.3:c.107A>T N [AAT] > I [ATT] Coding Sequence Variant
merlin isoform 7 NP_861968.1:p.Asn36Ile N (Asn) > I (Ile) Missense Variant
NF2 transcript variant 13 NM_181831.3:c.107A>G N [AAT] > S [AGT] Coding Sequence Variant
merlin isoform 7 NP_861969.1:p.Asn36Ser N (Asn) > S (Ser) Missense Variant
NF2 transcript variant 13 NM_181831.3:c.107A>T N [AAT] > I [ATT] Coding Sequence Variant
merlin isoform 7 NP_861969.1:p.Asn36Ile N (Asn) > I (Ile) Missense Variant
NF2 transcript variant 1 NM_000268.4:c.107A>G N [AAT] > S [AGT] Coding Sequence Variant
merlin isoform 1 NP_000259.1:p.Asn36Ser N (Asn) > S (Ser) Missense Variant
NF2 transcript variant 1 NM_000268.4:c.107A>T N [AAT] > I [ATT] Coding Sequence Variant
merlin isoform 1 NP_000259.1:p.Asn36Ile N (Asn) > I (Ile) Missense Variant
NF2 transcript variant 9 NM_181833.3:c.107A>G N [AAT] > S [AGT] Coding Sequence Variant
merlin isoform 8 NP_861971.1:p.Asn36Ser N (Asn) > S (Ser) Missense Variant
NF2 transcript variant 9 NM_181833.3:c.107A>T N [AAT] > I [ATT] Coding Sequence Variant
merlin isoform 8 NP_861971.1:p.Asn36Ile N (Asn) > I (Ile) Missense Variant
NF2 transcript variant 14 NR_156186.2:n.473A>G N/A Non Coding Transcript Variant
NF2 transcript variant 14 NR_156186.2:n.473A>T N/A Non Coding Transcript Variant
NF2 transcript variant X1 XM_017028809.3:c. N/A Genic Upstream Transcript Variant
NF2 transcript variant X2 XM_047441386.1:c. N/A Genic Upstream Transcript 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.

Allele: G (allele ID: 138631 )
ClinVar Accession Disease Names Clinical Significance
RCV000121642.1 not specified Not-Provided
RCV000564583.2 Hereditary cancer-predisposing syndrome Conflicting-Interpretations-Of-Pathogenicity
RCV000733228.8 not provided Conflicting-Interpretations-Of-Pathogenicity
RCV001085689.6 Neurofibromatosis, type 2 Benign-Likely-Benign
Allele: T (allele ID: 815160 )
ClinVar Accession Disease Names Clinical Significance
RCV001009871.1 Hereditary cancer-predisposing syndrome Uncertain-Significance
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 22 NC_000022.11:g.29604105= NC_000022.11:g.29604105A>G NC_000022.11:g.29604105A>T
GRCh37.p13 chr 22 NC_000022.10:g.30000094= NC_000022.10:g.30000094A>G NC_000022.10:g.30000094A>T
MERLIN RefSeqGene (LRG_511) NG_009057.1:g.5550= NG_009057.1:g.5550A>G NG_009057.1:g.5550A>T
NF2 transcript variant 2 NM_016418.5:c.107= NM_016418.5:c.107A>G NM_016418.5:c.107A>T
NF2 transcript variant 1 NM_000268.4:c.107= NM_000268.4:c.107A>G NM_000268.4:c.107A>T
NF2 transcript variant 1 NM_000268.3:c.107= NM_000268.3:c.107A>G NM_000268.3:c.107A>T
NF2 transcript variant 8 NM_181832.3:c.107= NM_181832.3:c.107A>G NM_181832.3:c.107A>T
NF2 transcript variant 8 NM_181832.2:c.107= NM_181832.2:c.107A>G NM_181832.2:c.107A>T
NF2 transcript variant 6 NM_181829.3:c.107= NM_181829.3:c.107A>G NM_181829.3:c.107A>T
NF2 transcript variant 6 NM_181829.2:c.107= NM_181829.2:c.107A>G NM_181829.2:c.107A>T
NF2 transcript variant 5 NM_181828.3:c.107= NM_181828.3:c.107A>G NM_181828.3:c.107A>T
NF2 transcript variant 5 NM_181828.2:c.107= NM_181828.2:c.107A>G NM_181828.2:c.107A>T
NF2 transcript variant 7 NM_181830.3:c.107= NM_181830.3:c.107A>G NM_181830.3:c.107A>T
NF2 transcript variant 7 NM_181830.2:c.107= NM_181830.2:c.107A>G NM_181830.2:c.107A>T
NF2 transcript variant 9 NM_181833.3:c.107= NM_181833.3:c.107A>G NM_181833.3:c.107A>T
NF2 transcript variant 9 NM_181833.2:c.107= NM_181833.2:c.107A>G NM_181833.2:c.107A>T
NF2 transcript variant 12 NM_181825.3:c.107= NM_181825.3:c.107A>G NM_181825.3:c.107A>T
NF2 transcript variant 12 NM_181825.2:c.107= NM_181825.2:c.107A>G NM_181825.2:c.107A>T
NF2 transcript variant 13 NM_181831.3:c.107= NM_181831.3:c.107A>G NM_181831.3:c.107A>T
NF2 transcript variant 13 NM_181831.2:c.107= NM_181831.2:c.107A>G NM_181831.2:c.107A>T
NF2 transcript variant 18 NM_001407056.1:c.-124= NM_001407056.1:c.-124A>G NM_001407056.1:c.-124A>T
NF2 transcript variant 27 NM_001407065.1:c.-534= NM_001407065.1:c.-534A>G NM_001407065.1:c.-534A>T
NF2 transcript variant 14 NM_001407053.1:c.-124= NM_001407053.1:c.-124A>G NM_001407053.1:c.-124A>T
NF2 transcript variant 23 NM_001407067.1:c.-150= NM_001407067.1:c.-150A>G NM_001407067.1:c.-150A>T
NF2 transcript variant 20 NM_001407058.1:c.107= NM_001407058.1:c.107A>G NM_001407058.1:c.107A>T
NF2 transcript variant 21 NM_001407059.1:c.107= NM_001407059.1:c.107A>G NM_001407059.1:c.107A>T
NF2 transcript variant 16 NM_001407054.1:c.107= NM_001407054.1:c.107A>G NM_001407054.1:c.107A>T
NF2 transcript variant 17 NM_001407055.1:c.107= NM_001407055.1:c.107A>G NM_001407055.1:c.107A>T
NF2 transcript variant 19 NM_001407057.1:c.107= NM_001407057.1:c.107A>G NM_001407057.1:c.107A>T
NF2 transcript variant 22 NM_001407060.1:c.107= NM_001407060.1:c.107A>G NM_001407060.1:c.107A>T
NF2 transcript variant 25 NM_001407063.1:c.107= NM_001407063.1:c.107A>G NM_001407063.1:c.107A>T
NF2 transcript variant 24 NM_001407062.1:c.107= NM_001407062.1:c.107A>G NM_001407062.1:c.107A>T
NF2 transcript variant 26 NM_001407064.1:c.107= NM_001407064.1:c.107A>G NM_001407064.1:c.107A>T
NF2 transcript variant 28 NR_176267.1:n.473= NR_176267.1:n.473A>G NR_176267.1:n.473A>T
NF2 transcript variant 15 NM_001407066.1:c.107= NM_001407066.1:c.107A>G NM_001407066.1:c.107A>T
NF2 transcript variant 14 NR_156186.2:n.473= NR_156186.2:n.473A>G NR_156186.2:n.473A>T
NF2 transcript variant 3 NM_181826.1:c.107= NM_181826.1:c.107A>G NM_181826.1:c.107A>T
NF2 transcript variant 14 NR_156186.1:n.550= NR_156186.1:n.550A>G NR_156186.1:n.550A>T
NF2 transcript variant 4 NM_181827.1:c.107= NM_181827.1:c.107A>G NM_181827.1:c.107A>T
NF2 transcript variant 11 NM_181835.1:c.107= NM_181835.1:c.107A>G NM_181835.1:c.107A>T
NF2 transcript variant 10 NM_181834.1:c.107= NM_181834.1:c.107A>G NM_181834.1:c.107A>T
merlin isoform 2 NP_057502.2:p.Asn36= NP_057502.2:p.Asn36Ser NP_057502.2:p.Asn36Ile
merlin isoform 1 NP_000259.1:p.Asn36= NP_000259.1:p.Asn36Ser NP_000259.1:p.Asn36Ile
merlin isoform 2 NP_861970.1:p.Asn36= NP_861970.1:p.Asn36Ser NP_861970.1:p.Asn36Ile
merlin isoform 6 NP_861967.1:p.Asn36= NP_861967.1:p.Asn36Ser NP_861967.1:p.Asn36Ile
merlin isoform 5 NP_861966.1:p.Asn36= NP_861966.1:p.Asn36Ser NP_861966.1:p.Asn36Ile
merlin isoform 7 NP_861968.1:p.Asn36= NP_861968.1:p.Asn36Ser NP_861968.1:p.Asn36Ile
merlin isoform 8 NP_861971.1:p.Asn36= NP_861971.1:p.Asn36Ser NP_861971.1:p.Asn36Ile
merlin isoform 2 NP_861546.1:p.Asn36= NP_861546.1:p.Asn36Ser NP_861546.1:p.Asn36Ile
merlin isoform 7 NP_861969.1:p.Asn36= NP_861969.1:p.Asn36Ser NP_861969.1:p.Asn36Ile
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#.

17 SubSNP, 8 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SSMP ss662537475 Apr 25, 2013 (138)
2 1000GENOMES ss1366972086 Aug 21, 2014 (142)
3 CLINVAR ss1457610393 Nov 23, 2014 (142)
4 EVA_EXAC ss1694295022 Apr 01, 2015 (144)
5 HUMAN_LONGEVITY ss2246937510 Dec 20, 2016 (150)
6 GNOMAD ss2745061590 Nov 08, 2017 (151)
7 GNOMAD ss2750531829 Nov 08, 2017 (151)
8 GNOMAD ss2973836944 Nov 08, 2017 (151)
9 ILLUMINA ss3022180587 Nov 08, 2017 (151)
10 ILLUMINA ss3652642762 Oct 12, 2018 (152)
11 ILLUMINA ss3725963793 Jul 13, 2019 (153)
12 TOPMED ss5107524830 Apr 27, 2021 (155)
13 1000G_HIGH_COVERAGE ss5310929454 Oct 16, 2022 (156)
14 EVA ss5440991712 Oct 16, 2022 (156)
15 1000G_HIGH_COVERAGE ss5618407166 Oct 16, 2022 (156)
16 SANFORD_IMAGENETICS ss5664399678 Oct 16, 2022 (156)
17 TOMMO_GENOMICS ss5793452402 Oct 16, 2022 (156)
18 1000Genomes NC_000022.10 - 30000094 Oct 12, 2018 (152)
19 1000Genomes_30x NC_000022.11 - 29604105 Oct 16, 2022 (156)
20 ExAC NC_000022.10 - 30000094 Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000022.11 - 29604105 Apr 27, 2021 (155)
22 gnomAD - Exomes NC_000022.10 - 30000094 Jul 13, 2019 (153)
23 14KJPN NC_000022.11 - 29604105 Oct 16, 2022 (156)
24 TopMed NC_000022.11 - 29604105 Apr 27, 2021 (155)
25 ALFA NC_000022.11 - 29604105 Apr 27, 2021 (155)
26 ClinVar RCV000121642.1 Oct 12, 2018 (152)
27 ClinVar RCV000564583.2 Oct 16, 2022 (156)
28 ClinVar RCV000733228.8 Oct 16, 2022 (156)
29 ClinVar RCV001009871.1 Apr 27, 2020 (154)
30 ClinVar RCV001085689.6 Oct 16, 2022 (156)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
80516904, 5872335, 14391563, ss662537475, ss1366972086, ss1694295022, ss2745061590, ss2750531829, ss2973836944, ss3022180587, ss3652642762, ss5440991712, ss5664399678 NC_000022.10:30000093:A:G NC_000022.11:29604104:A:G (self)
RCV000121642.1, RCV000564583.2, RCV000733228.8, RCV001085689.6, 105933101, 568580371, 127289506, 382633777, 6601693585, ss1457610393, ss2246937510, ss3725963793, ss5107524830, ss5310929454, ss5618407166, ss5793452402 NC_000022.11:29604104:A:G NC_000022.11:29604104:A:G (self)
RCV001009871.1 NC_000022.11:29604104:A:T NC_000022.11:29604104: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.

1 citation for rs372279458
PMID Title Author Year Journal
24728327 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL et al. 2014 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