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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.

rs1491351901

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:88041587 (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
dupG
Variation Type
Indel Insertion and Deletion
Frequency
dupG=0.000029 (4/140296, GnomAD)
dupG=0.0011 (5/4470, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
BANP : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 4470 G=0.9989 GG=0.0011 0.997763 0.0 0.002237 0
European Sub 4462 G=0.9989 GG=0.0011 0.997759 0.0 0.002241 0
African Sub 0 G=0 GG=0 0 0 0 N/A
African Others Sub 0 G=0 GG=0 0 0 0 N/A
African American Sub 0 G=0 GG=0 0 0 0 N/A
Asian Sub 0 G=0 GG=0 0 0 0 N/A
East Asian Sub 0 G=0 GG=0 0 0 0 N/A
Other Asian Sub 0 G=0 GG=0 0 0 0 N/A
Latin American 1 Sub 0 G=0 GG=0 0 0 0 N/A
Latin American 2 Sub 0 G=0 GG=0 0 0 0 N/A
South Asian Sub 0 G=0 GG=0 0 0 0 N/A
Other Sub 8 G=1.0 GG=0.0 1.0 0.0 0.0 N/A


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
gnomAD - Genomes Global Study-wide 140296 -

No frequency provided

dupG=0.000029
gnomAD - Genomes European Sub 75966 -

No frequency provided

dupG=0.00005
gnomAD - Genomes African Sub 42062 -

No frequency provided

dupG=0.00000
gnomAD - Genomes American Sub 13664 -

No frequency provided

dupG=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 -

No frequency provided

dupG=0.0000
gnomAD - Genomes East Asian Sub 3132 -

No frequency provided

dupG=0.0000
gnomAD - Genomes Other Sub 2148 -

No frequency provided

dupG=0.0000
Allele Frequency Aggregator Total Global 4470 G=0.9989 dupG=0.0011
Allele Frequency Aggregator European Sub 4462 G=0.9989 dupG=0.0011
Allele Frequency Aggregator Other Sub 8 G=1.0 dupG=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 G=0 dupG=0
Allele Frequency Aggregator Latin American 2 Sub 0 G=0 dupG=0
Allele Frequency Aggregator South Asian Sub 0 G=0 dupG=0
Allele Frequency Aggregator African Sub 0 G=0 dupG=0
Allele Frequency Aggregator Asian Sub 0 G=0 dupG=0
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 16 NC_000016.10:g.88041587dup
GRCh37.p13 chr 16 NC_000016.9:g.88075193dup
BANP RefSeqGene NG_029918.1:g.95156dup
Gene: BANP, BTG3 associated nuclear protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BANP transcript variant 3 NM_001173539.2:c.1302+357…

NM_001173539.2:c.1302+3576dup

N/A Intron Variant
BANP transcript variant 4 NM_001173540.2:c.1212+357…

NM_001173540.2:c.1212+3576dup

N/A Intron Variant
BANP transcript variant 5 NM_001173541.2:c.1185+357…

NM_001173541.2:c.1185+3576dup

N/A Intron Variant
BANP transcript variant 6 NM_001173542.1:c.1311+357…

NM_001173542.1:c.1311+3576dup

N/A Intron Variant
BANP transcript variant 7 NM_001173543.1:c.1278+357…

NM_001173543.1:c.1278+3576dup

N/A Intron Variant
BANP transcript variant 8 NM_001384916.1:c.1194+357…

NM_001384916.1:c.1194+3576dup

N/A Intron Variant
BANP transcript variant 9 NM_001384918.1:c.1302+357…

NM_001384918.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant 10 NM_001384919.1:c.1302+357…

NM_001384919.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant 11 NM_001384920.1:c.1302+357…

NM_001384920.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant 12 NM_001384921.1:c.1185+357…

NM_001384921.1:c.1185+3576dup

N/A Intron Variant
BANP transcript variant 13 NM_001384922.1:c.1185+357…

NM_001384922.1:c.1185+3576dup

N/A Intron Variant
BANP transcript variant 14 NM_001384923.1:c.1185+357…

NM_001384923.1:c.1185+3576dup

N/A Intron Variant
BANP transcript variant 15 NM_001384925.1:c.1311+357…

NM_001384925.1:c.1311+3576dup

N/A Intron Variant
BANP transcript variant 16 NM_001384926.1:c.1311+357…

NM_001384926.1:c.1311+3576dup

N/A Intron Variant
BANP transcript variant 17 NM_001384927.1:c.1311+357…

NM_001384927.1:c.1311+3576dup

N/A Intron Variant
BANP transcript variant 18 NM_001384928.1:c.1329+357…

NM_001384928.1:c.1329+3576dup

N/A Intron Variant
BANP transcript variant 19 NM_001384929.1:c.1329+357…

NM_001384929.1:c.1329+3576dup

N/A Intron Variant
BANP transcript variant 20 NM_001384931.1:c.1320+357…

NM_001384931.1:c.1320+3576dup

N/A Intron Variant
BANP transcript variant 21 NM_001384935.1:c.1320+357…

NM_001384935.1:c.1320+3576dup

N/A Intron Variant
BANP transcript variant 22 NM_001384936.1:c.1212+357…

NM_001384936.1:c.1212+3576dup

N/A Intron Variant
BANP transcript variant 23 NM_001384937.1:c.1212+357…

NM_001384937.1:c.1212+3576dup

N/A Intron Variant
BANP transcript variant 24 NM_001384938.1:c.1203+357…

NM_001384938.1:c.1203+3576dup

N/A Intron Variant
BANP transcript variant 25 NM_001384939.1:c.1002+357…

NM_001384939.1:c.1002+3576dup

N/A Intron Variant
BANP transcript variant 26 NM_001384940.1:c.1002+357…

NM_001384940.1:c.1002+3576dup

N/A Intron Variant
BANP transcript variant 27 NM_001384941.1:c.993+3576…

NM_001384941.1:c.993+3576dup

N/A Intron Variant
BANP transcript variant 28 NM_001384942.1:c.993+3576…

NM_001384942.1:c.993+3576dup

N/A Intron Variant
BANP transcript variant 29 NM_001384943.1:c.885+3576…

NM_001384943.1:c.885+3576dup

N/A Intron Variant
BANP transcript variant 30 NM_001384944.1:c.876+3576…

NM_001384944.1:c.876+3576dup

N/A Intron Variant
BANP transcript variant 31 NM_001386991.1:c.1311+357…

NM_001386991.1:c.1311+3576dup

N/A Intron Variant
BANP transcript variant 32 NM_001386992.1:c.1302+357…

NM_001386992.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant 1 NM_017869.4:c.1194+3576dup N/A Intron Variant
BANP transcript variant 2 NM_079837.3:c.1194+3576dup N/A Intron Variant
BANP transcript variant X1 XM_011523170.2:c.1329+357…

XM_011523170.2:c.1329+3576dup

N/A Intron Variant
BANP transcript variant X2 XM_011523174.3:c.1329+357…

XM_011523174.3:c.1329+3576dup

N/A Intron Variant
BANP transcript variant X6 XM_011523175.4:c.1329+357…

XM_011523175.4:c.1329+3576dup

N/A Intron Variant
BANP transcript variant X5 XM_011523176.3:c.1329+357…

XM_011523176.3:c.1329+3576dup

N/A Intron Variant
BANP transcript variant X7 XM_011523178.2:c.1320+357…

XM_011523178.2:c.1320+3576dup

N/A Intron Variant
BANP transcript variant X8 XM_011523180.3:c.1311+357…

XM_011523180.3:c.1311+3576dup

N/A Intron Variant
BANP transcript variant X12 XM_017023379.3:c.1302+357…

XM_017023379.3:c.1302+3576dup

N/A Intron Variant
BANP transcript variant X19 XM_017023380.2:c.1185+357…

XM_017023380.2:c.1185+3576dup

N/A Intron Variant
BANP transcript variant X22 XM_024450327.2:c.1002+357…

XM_024450327.2:c.1002+3576dup

N/A Intron Variant
BANP transcript variant X3 XM_047434280.1:c.1329+357…

XM_047434280.1:c.1329+3576dup

N/A Intron Variant
BANP transcript variant X4 XM_047434281.1:c.1329+357…

XM_047434281.1:c.1329+3576dup

N/A Intron Variant
BANP transcript variant X9 XM_047434283.1:c.1311+357…

XM_047434283.1:c.1311+3576dup

N/A Intron Variant
BANP transcript variant X10 XM_047434284.1:c.1311+357…

XM_047434284.1:c.1311+3576dup

N/A Intron Variant
BANP transcript variant X11 XM_047434285.1:c.1302+357…

XM_047434285.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant X13 XM_047434286.1:c.1302+357…

XM_047434286.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant X14 XM_047434287.1:c.1302+357…

XM_047434287.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant X15 XM_047434288.1:c.1302+357…

XM_047434288.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant X16 XM_047434290.1:c.1302+357…

XM_047434290.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant X17 XM_047434291.1:c.1302+357…

XM_047434291.1:c.1302+3576dup

N/A Intron Variant
BANP transcript variant X18 XM_047434292.1:c.1203+357…

XM_047434292.1:c.1203+3576dup

N/A Intron Variant
BANP transcript variant X20 XM_047434293.1:c.1185+357…

XM_047434293.1:c.1185+3576dup

N/A Intron Variant
BANP transcript variant X21 XM_047434294.1:c.1185+357…

XM_047434294.1:c.1185+3576dup

N/A Intron Variant
BANP transcript variant X23 XM_047434295.1:c.993+3576…

XM_047434295.1:c.993+3576dup

N/A Intron Variant
BANP transcript variant X24 XM_047434296.1:c.966+3576…

XM_047434296.1:c.966+3576dup

N/A Intron Variant
BANP transcript variant X25 XM_047434297.1:c.993+3576…

XM_047434297.1:c.993+3576dup

N/A Intron Variant
BANP transcript variant X26 XM_047434298.1:c.885+3576…

XM_047434298.1:c.885+3576dup

N/A Intron Variant
BANP transcript variant X27 XM_047434299.1:c.876+3576…

XM_047434299.1:c.876+3576dup

N/A Intron Variant
BANP transcript variant X28 XM_047434300.1:c.876+3576…

XM_047434300.1:c.876+3576dup

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 G= dupG
GRCh38.p14 chr 16 NC_000016.10:g.88041587= NC_000016.10:g.88041587dup
GRCh37.p13 chr 16 NC_000016.9:g.88075193= NC_000016.9:g.88075193dup
BANP RefSeqGene NG_029918.1:g.95156= NG_029918.1:g.95156dup
BANP transcript variant 3 NM_001173539.1:c.1302+3576= NM_001173539.1:c.1302+3576dup
BANP transcript variant 3 NM_001173539.2:c.1302+3576= NM_001173539.2:c.1302+3576dup
BANP transcript variant 4 NM_001173540.1:c.1212+3576= NM_001173540.1:c.1212+3576dup
BANP transcript variant 4 NM_001173540.2:c.1212+3576= NM_001173540.2:c.1212+3576dup
BANP transcript variant 5 NM_001173541.1:c.1185+3576= NM_001173541.1:c.1185+3576dup
BANP transcript variant 5 NM_001173541.2:c.1185+3576= NM_001173541.2:c.1185+3576dup
BANP transcript variant 6 NM_001173542.1:c.1311+3576= NM_001173542.1:c.1311+3576dup
BANP transcript variant 7 NM_001173543.1:c.1278+3576= NM_001173543.1:c.1278+3576dup
BANP transcript variant 8 NM_001384916.1:c.1194+3576= NM_001384916.1:c.1194+3576dup
BANP transcript variant 9 NM_001384918.1:c.1302+3576= NM_001384918.1:c.1302+3576dup
BANP transcript variant 10 NM_001384919.1:c.1302+3576= NM_001384919.1:c.1302+3576dup
BANP transcript variant 11 NM_001384920.1:c.1302+3576= NM_001384920.1:c.1302+3576dup
BANP transcript variant 12 NM_001384921.1:c.1185+3576= NM_001384921.1:c.1185+3576dup
BANP transcript variant 13 NM_001384922.1:c.1185+3576= NM_001384922.1:c.1185+3576dup
BANP transcript variant 14 NM_001384923.1:c.1185+3576= NM_001384923.1:c.1185+3576dup
BANP transcript variant 15 NM_001384925.1:c.1311+3576= NM_001384925.1:c.1311+3576dup
BANP transcript variant 16 NM_001384926.1:c.1311+3576= NM_001384926.1:c.1311+3576dup
BANP transcript variant 17 NM_001384927.1:c.1311+3576= NM_001384927.1:c.1311+3576dup
BANP transcript variant 18 NM_001384928.1:c.1329+3576= NM_001384928.1:c.1329+3576dup
BANP transcript variant 19 NM_001384929.1:c.1329+3576= NM_001384929.1:c.1329+3576dup
BANP transcript variant 20 NM_001384931.1:c.1320+3576= NM_001384931.1:c.1320+3576dup
BANP transcript variant 21 NM_001384935.1:c.1320+3576= NM_001384935.1:c.1320+3576dup
BANP transcript variant 22 NM_001384936.1:c.1212+3576= NM_001384936.1:c.1212+3576dup
BANP transcript variant 23 NM_001384937.1:c.1212+3576= NM_001384937.1:c.1212+3576dup
BANP transcript variant 24 NM_001384938.1:c.1203+3576= NM_001384938.1:c.1203+3576dup
BANP transcript variant 25 NM_001384939.1:c.1002+3576= NM_001384939.1:c.1002+3576dup
BANP transcript variant 26 NM_001384940.1:c.1002+3576= NM_001384940.1:c.1002+3576dup
BANP transcript variant 27 NM_001384941.1:c.993+3576= NM_001384941.1:c.993+3576dup
BANP transcript variant 28 NM_001384942.1:c.993+3576= NM_001384942.1:c.993+3576dup
BANP transcript variant 29 NM_001384943.1:c.885+3576= NM_001384943.1:c.885+3576dup
BANP transcript variant 30 NM_001384944.1:c.876+3576= NM_001384944.1:c.876+3576dup
BANP transcript variant 31 NM_001386991.1:c.1311+3576= NM_001386991.1:c.1311+3576dup
BANP transcript variant 32 NM_001386992.1:c.1302+3576= NM_001386992.1:c.1302+3576dup
BANP transcript variant 1 NM_017869.3:c.1194+3576= NM_017869.3:c.1194+3576dup
BANP transcript variant 1 NM_017869.4:c.1194+3576= NM_017869.4:c.1194+3576dup
BANP transcript variant 2 NM_079837.2:c.1194+3576= NM_079837.2:c.1194+3576dup
BANP transcript variant 2 NM_079837.3:c.1194+3576= NM_079837.3:c.1194+3576dup
BANP transcript variant X1 XM_005256007.1:c.1278+3576= XM_005256007.1:c.1278+3576dup
BANP transcript variant X2 XM_005256008.1:c.1329+3576= XM_005256008.1:c.1329+3576dup
BANP transcript variant X3 XM_005256009.1:c.1311+3576= XM_005256009.1:c.1311+3576dup
BANP transcript variant X4 XM_005256010.1:c.1002+3576= XM_005256010.1:c.1002+3576dup
BANP transcript variant X5 XM_005256011.1:c.1002+3576= XM_005256011.1:c.1002+3576dup
BANP transcript variant X6 XM_005256012.1:c.885+3576= XM_005256012.1:c.885+3576dup
BANP transcript variant X1 XM_011523170.2:c.1329+3576= XM_011523170.2:c.1329+3576dup
BANP transcript variant X2 XM_011523174.3:c.1329+3576= XM_011523174.3:c.1329+3576dup
BANP transcript variant X6 XM_011523175.4:c.1329+3576= XM_011523175.4:c.1329+3576dup
BANP transcript variant X5 XM_011523176.3:c.1329+3576= XM_011523176.3:c.1329+3576dup
BANP transcript variant X7 XM_011523178.2:c.1320+3576= XM_011523178.2:c.1320+3576dup
BANP transcript variant X8 XM_011523180.3:c.1311+3576= XM_011523180.3:c.1311+3576dup
BANP transcript variant X12 XM_017023379.3:c.1302+3576= XM_017023379.3:c.1302+3576dup
BANP transcript variant X19 XM_017023380.2:c.1185+3576= XM_017023380.2:c.1185+3576dup
BANP transcript variant X22 XM_024450327.2:c.1002+3576= XM_024450327.2:c.1002+3576dup
BANP transcript variant X3 XM_047434280.1:c.1329+3576= XM_047434280.1:c.1329+3576dup
BANP transcript variant X4 XM_047434281.1:c.1329+3576= XM_047434281.1:c.1329+3576dup
BANP transcript variant X9 XM_047434283.1:c.1311+3576= XM_047434283.1:c.1311+3576dup
BANP transcript variant X10 XM_047434284.1:c.1311+3576= XM_047434284.1:c.1311+3576dup
BANP transcript variant X11 XM_047434285.1:c.1302+3576= XM_047434285.1:c.1302+3576dup
BANP transcript variant X13 XM_047434286.1:c.1302+3576= XM_047434286.1:c.1302+3576dup
BANP transcript variant X14 XM_047434287.1:c.1302+3576= XM_047434287.1:c.1302+3576dup
BANP transcript variant X15 XM_047434288.1:c.1302+3576= XM_047434288.1:c.1302+3576dup
BANP transcript variant X16 XM_047434290.1:c.1302+3576= XM_047434290.1:c.1302+3576dup
BANP transcript variant X17 XM_047434291.1:c.1302+3576= XM_047434291.1:c.1302+3576dup
BANP transcript variant X18 XM_047434292.1:c.1203+3576= XM_047434292.1:c.1203+3576dup
BANP transcript variant X20 XM_047434293.1:c.1185+3576= XM_047434293.1:c.1185+3576dup
BANP transcript variant X21 XM_047434294.1:c.1185+3576= XM_047434294.1:c.1185+3576dup
BANP transcript variant X23 XM_047434295.1:c.993+3576= XM_047434295.1:c.993+3576dup
BANP transcript variant X24 XM_047434296.1:c.966+3576= XM_047434296.1:c.966+3576dup
BANP transcript variant X25 XM_047434297.1:c.993+3576= XM_047434297.1:c.993+3576dup
BANP transcript variant X26 XM_047434298.1:c.885+3576= XM_047434298.1:c.885+3576dup
BANP transcript variant X27 XM_047434299.1:c.876+3576= XM_047434299.1:c.876+3576dup
BANP transcript variant X28 XM_047434300.1:c.876+3576= XM_047434300.1:c.876+3576dup
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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#.

1 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2946471337 Jan 10, 2018 (151)
2 gnomAD - Genomes NC_000016.10 - 88041587 Apr 27, 2021 (155)
3 ALFA NC_000016.10 - 88041587 Apr 27, 2021 (155)
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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
ss2946471337 NC_000016.9:88075192::G NC_000016.10:88041586:G:GG (self)
498420410 NC_000016.10:88041586::G NC_000016.10:88041586:G:GG (self)
6146559895 NC_000016.10:88041586:G:GG NC_000016.10:88041586:G:GG (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1491351901

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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
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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.post820+afb47a3d