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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.

rs918188703

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:95098024-95098033 (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
delT / dupT / dupTT
Variation Type
Indel Insertion and Deletion
Frequency
delT=0.00016 (3/18514, ALFA)
delT=0.0007 (3/4480, Estonian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DICER1 : 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 18514 TTTTTTTTTT=0.99984 TTTTTTTTT=0.00016, TTTTTTTTTTT=0.00000 0.999676 0.0 0.000324 0
European Sub 14150 TTTTTTTTTT=0.99979 TTTTTTTTT=0.00021, TTTTTTTTTTT=0.00000 0.999576 0.0 0.000424 0
African Sub 2894 TTTTTTTTTT=1.0000 TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 112 TTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African American Sub 2782 TTTTTTTTTT=1.0000 TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 TTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 TTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 TTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 TTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 TTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 TTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 504 TTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTTT=0.000 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
Allele Frequency Aggregator Total Global 18514 (T)10=0.99984 delT=0.00016, dupT=0.00000
Allele Frequency Aggregator European Sub 14150 (T)10=0.99979 delT=0.00021, dupT=0.00000
Allele Frequency Aggregator African Sub 2894 (T)10=1.0000 delT=0.0000, dupT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (T)10=1.000 delT=0.000, dupT=0.000
Allele Frequency Aggregator Other Sub 504 (T)10=1.000 delT=0.000, dupT=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (T)10=1.000 delT=0.000, dupT=0.000
Allele Frequency Aggregator Asian Sub 112 (T)10=1.000 delT=0.000, dupT=0.000
Allele Frequency Aggregator South Asian Sub 98 (T)10=1.00 delT=0.00, dupT=0.00
Genetic variation in the Estonian population Estonian Study-wide 4480 (T)10=0.9993 delT=0.0007
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 14 NC_000014.9:g.95098033del
GRCh38.p14 chr 14 NC_000014.9:g.95098033dup
GRCh38.p14 chr 14 NC_000014.9:g.95098032_95098033dup
GRCh37.p13 chr 14 NC_000014.8:g.95564370del
GRCh37.p13 chr 14 NC_000014.8:g.95564370dup
GRCh37.p13 chr 14 NC_000014.8:g.95564369_95564370dup
DICER1 RefSeqGene (LRG_492) NG_016311.1:g.64399del
DICER1 RefSeqGene (LRG_492) NG_016311.1:g.64399dup
DICER1 RefSeqGene (LRG_492) NG_016311.1:g.64398_64399dup
Gene: DICER1, dicer 1, ribonuclease III (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DICER1 transcript variant 3 NM_001195573.1:c.4207-131…

NM_001195573.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 4 NM_001271282.3:c.4207-131…

NM_001271282.3:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 5 NM_001291628.2:c.4207-131…

NM_001291628.2:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 6 NM_001395677.1:c.4207-131…

NM_001395677.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 7 NM_001395678.1:c.4207-131…

NM_001395678.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 8 NM_001395679.1:c.4207-131…

NM_001395679.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 9 NM_001395680.1:c.4207-131…

NM_001395680.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 11 NM_001395682.1:c.4207-131…

NM_001395682.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 12 NM_001395683.1:c.4207-131…

NM_001395683.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 13 NM_001395684.1:c.4207-131…

NM_001395684.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 14 NM_001395685.1:c.4207-131…

NM_001395685.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 15 NM_001395686.1:c.3925-131…

NM_001395686.1:c.3925-1311del

N/A Intron Variant
DICER1 transcript variant 16 NM_001395687.1:c.3802-131…

NM_001395687.1:c.3802-1311del

N/A Intron Variant
DICER1 transcript variant 17 NM_001395688.1:c.3802-131…

NM_001395688.1:c.3802-1311del

N/A Intron Variant
DICER1 transcript variant 18 NM_001395689.1:c.3802-131…

NM_001395689.1:c.3802-1311del

N/A Intron Variant
DICER1 transcript variant 19 NM_001395690.1:c.3802-131…

NM_001395690.1:c.3802-1311del

N/A Intron Variant
DICER1 transcript variant 20 NM_001395691.1:c.3640-131…

NM_001395691.1:c.3640-1311del

N/A Intron Variant
DICER1 transcript variant 21 NM_001395692.1:c.4207-131…

NM_001395692.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 22 NM_001395693.1:c.4207-131…

NM_001395693.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 23 NM_001395694.1:c.4207-131…

NM_001395694.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 24 NM_001395695.1:c.4207-131…

NM_001395695.1:c.4207-1311del

N/A Intron Variant
DICER1 transcript variant 25 NM_001395696.1:c.3802-131…

NM_001395696.1:c.3802-1311del

N/A Intron Variant
DICER1 transcript variant 27 NM_001395697.1:c.2524-131…

NM_001395697.1:c.2524-1311del

N/A Intron Variant
DICER1 transcript variant 2 NM_030621.4:c.4207-1311del N/A Intron Variant
DICER1 transcript variant 1 NM_177438.3:c.4207-1311del N/A Intron Variant
DICER1 transcript variant 28 NM_001395698.1:c. N/A Genic Downstream Transcript Variant
DICER1 transcript variant 29 NM_001395699.1:c. N/A Genic Downstream Transcript Variant
DICER1 transcript variant 30 NM_001395700.1:c. N/A Genic Downstream Transcript Variant
DICER1 transcript variant 31 NR_172715.1:n. N/A Intron Variant
DICER1 transcript variant 32 NR_172716.1:n. N/A Intron Variant
DICER1 transcript variant 33 NR_172717.1:n. N/A Intron Variant
DICER1 transcript variant 34 NR_172718.1:n. N/A Intron Variant
DICER1 transcript variant 35 NR_172719.1:n. N/A Intron Variant
DICER1 transcript variant 36 NR_172720.1:n. 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)10= delT dupT dupTT
GRCh38.p14 chr 14 NC_000014.9:g.95098024_95098033= NC_000014.9:g.95098033del NC_000014.9:g.95098033dup NC_000014.9:g.95098032_95098033dup
GRCh37.p13 chr 14 NC_000014.8:g.95564361_95564370= NC_000014.8:g.95564370del NC_000014.8:g.95564370dup NC_000014.8:g.95564369_95564370dup
DICER1 RefSeqGene (LRG_492) NG_016311.1:g.64390_64399= NG_016311.1:g.64399del NG_016311.1:g.64399dup NG_016311.1:g.64398_64399dup
DICER1 transcript variant 3 NM_001195573.1:c.4207-1311= NM_001195573.1:c.4207-1311del NM_001195573.1:c.4207-1311dup NM_001195573.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 4 NM_001271282.1:c.4207-1311= NM_001271282.1:c.4207-1311del NM_001271282.1:c.4207-1311dup NM_001271282.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 4 NM_001271282.3:c.4207-1311= NM_001271282.3:c.4207-1311del NM_001271282.3:c.4207-1311dup NM_001271282.3:c.4207-1312_4207-1311dup
DICER1 transcript variant 5 NM_001291628.2:c.4207-1311= NM_001291628.2:c.4207-1311del NM_001291628.2:c.4207-1311dup NM_001291628.2:c.4207-1312_4207-1311dup
DICER1 transcript variant 6 NM_001395677.1:c.4207-1311= NM_001395677.1:c.4207-1311del NM_001395677.1:c.4207-1311dup NM_001395677.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 7 NM_001395678.1:c.4207-1311= NM_001395678.1:c.4207-1311del NM_001395678.1:c.4207-1311dup NM_001395678.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 8 NM_001395679.1:c.4207-1311= NM_001395679.1:c.4207-1311del NM_001395679.1:c.4207-1311dup NM_001395679.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 9 NM_001395680.1:c.4207-1311= NM_001395680.1:c.4207-1311del NM_001395680.1:c.4207-1311dup NM_001395680.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 11 NM_001395682.1:c.4207-1311= NM_001395682.1:c.4207-1311del NM_001395682.1:c.4207-1311dup NM_001395682.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 12 NM_001395683.1:c.4207-1311= NM_001395683.1:c.4207-1311del NM_001395683.1:c.4207-1311dup NM_001395683.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 13 NM_001395684.1:c.4207-1311= NM_001395684.1:c.4207-1311del NM_001395684.1:c.4207-1311dup NM_001395684.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 14 NM_001395685.1:c.4207-1311= NM_001395685.1:c.4207-1311del NM_001395685.1:c.4207-1311dup NM_001395685.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 15 NM_001395686.1:c.3925-1311= NM_001395686.1:c.3925-1311del NM_001395686.1:c.3925-1311dup NM_001395686.1:c.3925-1312_3925-1311dup
DICER1 transcript variant 16 NM_001395687.1:c.3802-1311= NM_001395687.1:c.3802-1311del NM_001395687.1:c.3802-1311dup NM_001395687.1:c.3802-1312_3802-1311dup
DICER1 transcript variant 17 NM_001395688.1:c.3802-1311= NM_001395688.1:c.3802-1311del NM_001395688.1:c.3802-1311dup NM_001395688.1:c.3802-1312_3802-1311dup
DICER1 transcript variant 18 NM_001395689.1:c.3802-1311= NM_001395689.1:c.3802-1311del NM_001395689.1:c.3802-1311dup NM_001395689.1:c.3802-1312_3802-1311dup
DICER1 transcript variant 19 NM_001395690.1:c.3802-1311= NM_001395690.1:c.3802-1311del NM_001395690.1:c.3802-1311dup NM_001395690.1:c.3802-1312_3802-1311dup
DICER1 transcript variant 20 NM_001395691.1:c.3640-1311= NM_001395691.1:c.3640-1311del NM_001395691.1:c.3640-1311dup NM_001395691.1:c.3640-1312_3640-1311dup
DICER1 transcript variant 21 NM_001395692.1:c.4207-1311= NM_001395692.1:c.4207-1311del NM_001395692.1:c.4207-1311dup NM_001395692.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 22 NM_001395693.1:c.4207-1311= NM_001395693.1:c.4207-1311del NM_001395693.1:c.4207-1311dup NM_001395693.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 23 NM_001395694.1:c.4207-1311= NM_001395694.1:c.4207-1311del NM_001395694.1:c.4207-1311dup NM_001395694.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 24 NM_001395695.1:c.4207-1311= NM_001395695.1:c.4207-1311del NM_001395695.1:c.4207-1311dup NM_001395695.1:c.4207-1312_4207-1311dup
DICER1 transcript variant 25 NM_001395696.1:c.3802-1311= NM_001395696.1:c.3802-1311del NM_001395696.1:c.3802-1311dup NM_001395696.1:c.3802-1312_3802-1311dup
DICER1 transcript variant 27 NM_001395697.1:c.2524-1311= NM_001395697.1:c.2524-1311del NM_001395697.1:c.2524-1311dup NM_001395697.1:c.2524-1312_2524-1311dup
DICER1 transcript variant 2 NM_030621.3:c.4207-1311= NM_030621.3:c.4207-1311del NM_030621.3:c.4207-1311dup NM_030621.3:c.4207-1312_4207-1311dup
DICER1 transcript variant 2 NM_030621.4:c.4207-1311= NM_030621.4:c.4207-1311del NM_030621.4:c.4207-1311dup NM_030621.4:c.4207-1312_4207-1311dup
DICER1 transcript variant 1 NM_177438.2:c.4207-1311= NM_177438.2:c.4207-1311del NM_177438.2:c.4207-1311dup NM_177438.2:c.4207-1312_4207-1311dup
DICER1 transcript variant 1 NM_177438.3:c.4207-1311= NM_177438.3:c.4207-1311del NM_177438.3:c.4207-1311dup NM_177438.3:c.4207-1312_4207-1311dup
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#.

12 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 EGCUT_WGS ss3679967973 Jul 13, 2019 (153)
2 PACBIO ss3787753134 Jul 13, 2019 (153)
3 EVA ss3834079121 Apr 27, 2020 (154)
4 GNOMAD ss4283323698 Apr 26, 2021 (155)
5 GNOMAD ss4283323699 Apr 26, 2021 (155)
6 GNOMAD ss4283323700 Apr 26, 2021 (155)
7 TOMMO_GENOMICS ss5214621527 Apr 26, 2021 (155)
8 TOMMO_GENOMICS ss5214621528 Apr 26, 2021 (155)
9 HUGCELL_USP ss5491242971 Oct 16, 2022 (156)
10 SANFORD_IMAGENETICS ss5656832636 Oct 16, 2022 (156)
11 TOMMO_GENOMICS ss5767823840 Oct 16, 2022 (156)
12 TOMMO_GENOMICS ss5767823841 Oct 16, 2022 (156)
13 Genetic variation in the Estonian population NC_000014.8 - 95564361 Oct 12, 2018 (152)
14 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 460016740 (NC_000014.9:95098023::T 11/137498)
Row 460016741 (NC_000014.9:95098023::TT 1/137566)
Row 460016742 (NC_000014.9:95098023:T: 56/137504)

- Apr 26, 2021 (155)
15 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 460016740 (NC_000014.9:95098023::T 11/137498)
Row 460016741 (NC_000014.9:95098023::TT 1/137566)
Row 460016742 (NC_000014.9:95098023:T: 56/137504)

- Apr 26, 2021 (155)
16 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 460016740 (NC_000014.9:95098023::T 11/137498)
Row 460016741 (NC_000014.9:95098023::TT 1/137566)
Row 460016742 (NC_000014.9:95098023:T: 56/137504)

- Apr 26, 2021 (155)
17 8.3KJPN

Submission ignored due to conflicting rows:
Row 72590834 (NC_000014.8:95564360::T 20/16760)
Row 72590835 (NC_000014.8:95564360:T: 6/16760)

- Apr 26, 2021 (155)
18 8.3KJPN

Submission ignored due to conflicting rows:
Row 72590834 (NC_000014.8:95564360::T 20/16760)
Row 72590835 (NC_000014.8:95564360:T: 6/16760)

- Apr 26, 2021 (155)
19 14KJPN

Submission ignored due to conflicting rows:
Row 101660944 (NC_000014.9:95098023::T 39/28258)
Row 101660945 (NC_000014.9:95098023:T: 7/28258)

- Oct 16, 2022 (156)
20 14KJPN

Submission ignored due to conflicting rows:
Row 101660944 (NC_000014.9:95098023::T 39/28258)
Row 101660945 (NC_000014.9:95098023:T: 7/28258)

- Oct 16, 2022 (156)
21 ALFA NC_000014.9 - 95098024 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
25706221, ss3679967973, ss3787753134, ss3834079121, ss5214621528, ss5656832636 NC_000014.8:95564360:T: NC_000014.9:95098023:TTTTTTTTTT:TT…

NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTT

(self)
ss4283323700, ss5491242971, ss5767823841 NC_000014.9:95098023:T: NC_000014.9:95098023:TTTTTTTTTT:TT…

NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTT

(self)
10972275420 NC_000014.9:95098023:TTTTTTTTTT:TT…

NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTT

NC_000014.9:95098023:TTTTTTTTTT:TT…

NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTT

(self)
ss5214621527 NC_000014.8:95564360::T NC_000014.9:95098023:TTTTTTTTTT:TT…

NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss4283323698, ss5767823840 NC_000014.9:95098023::T NC_000014.9:95098023:TTTTTTTTTT:TT…

NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTTTT

(self)
10972275420 NC_000014.9:95098023:TTTTTTTTTT:TT…

NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTTTT

NC_000014.9:95098023:TTTTTTTTTT:TT…

NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss4283323699 NC_000014.9:95098023::TT NC_000014.9:95098023:TTTTTTTTTT:TT…

NC_000014.9:95098023:TTTTTTTTTT:TTTTTTTTTTTT

(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 rs918188703

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.post820+afb47a3d