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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.

rs418

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:91954020 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.420363 (111266/264690, TOPMED)
T=0.489323 (79696/162870, ALFA)
T=0.427430 (59753/139796, GnomAD) (+ 17 more)
T=0.45998 (12998/28258, 14KJPN)
T=0.45900 (7692/16758, 8.3KJPN)
T=0.3923 (2512/6404, 1000G_30x)
T=0.4028 (2017/5008, 1000G)
C=0.4721 (2115/4480, Estonian)
C=0.4883 (1882/3854, ALSPAC)
C=0.4641 (1721/3708, TWINSUK)
T=0.4433 (1299/2930, KOREAN)
T=0.3578 (677/1892, HapMap)
T=0.4241 (777/1832, Korea1K)
C=0.449 (448/998, GoNL)
T=0.457 (274/600, NorthernSweden)
C=0.325 (126/388, SGDP_PRJ)
T=0.421 (91/216, Qatari)
T=0.472 (102/216, Vietnamese)
C=0.45 (18/40, GENOME_DK)
C=0.37 (11/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AKAP9 : 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 162870 C=0.510677 G=0.000000, T=0.489323
European Sub 142080 C=0.500324 G=0.000000, T=0.499676
African Sub 6458 C=0.7767 G=0.0000, T=0.2233
African Others Sub 236 C=0.877 G=0.000, T=0.123
African American Sub 6222 C=0.7729 G=0.0000, T=0.2271
Asian Sub 674 C=0.558 G=0.000, T=0.442
East Asian Sub 542 C=0.570 G=0.000, T=0.430
Other Asian Sub 132 C=0.508 G=0.000, T=0.492
Latin American 1 Sub 752 C=0.539 G=0.000, T=0.461
Latin American 2 Sub 6308 C=0.4423 G=0.0000, T=0.5577
South Asian Sub 184 C=0.527 G=0.000, T=0.473
Other Sub 6414 C=0.5307 G=0.0000, T=0.4693


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 C=0.579637 T=0.420363
Allele Frequency Aggregator Total Global 162870 C=0.510677 G=0.000000, T=0.489323
Allele Frequency Aggregator European Sub 142080 C=0.500324 G=0.000000, T=0.499676
Allele Frequency Aggregator African Sub 6458 C=0.7767 G=0.0000, T=0.2233
Allele Frequency Aggregator Other Sub 6414 C=0.5307 G=0.0000, T=0.4693
Allele Frequency Aggregator Latin American 2 Sub 6308 C=0.4423 G=0.0000, T=0.5577
Allele Frequency Aggregator Latin American 1 Sub 752 C=0.539 G=0.000, T=0.461
Allele Frequency Aggregator Asian Sub 674 C=0.558 G=0.000, T=0.442
Allele Frequency Aggregator South Asian Sub 184 C=0.527 G=0.000, T=0.473
gnomAD - Genomes Global Study-wide 139796 C=0.572570 T=0.427430
gnomAD - Genomes European Sub 75756 C=0.47941 T=0.52059
gnomAD - Genomes African Sub 41826 C=0.76605 T=0.23395
gnomAD - Genomes American Sub 13630 C=0.47843 T=0.52157
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.6518 T=0.3482
gnomAD - Genomes East Asian Sub 3120 C=0.5702 T=0.4298
gnomAD - Genomes Other Sub 2144 C=0.5690 T=0.4310
14KJPN JAPANESE Study-wide 28258 C=0.54002 T=0.45998
8.3KJPN JAPANESE Study-wide 16758 C=0.54100 T=0.45900
1000Genomes_30x Global Study-wide 6404 C=0.6077 T=0.3923
1000Genomes_30x African Sub 1786 C=0.8359 T=0.1641
1000Genomes_30x Europe Sub 1266 C=0.4818 T=0.5182
1000Genomes_30x South Asian Sub 1202 C=0.5582 T=0.4418
1000Genomes_30x East Asian Sub 1170 C=0.5368 T=0.4632
1000Genomes_30x American Sub 980 C=0.500 T=0.500
1000Genomes Global Study-wide 5008 C=0.5972 T=0.4028
1000Genomes African Sub 1322 C=0.8245 T=0.1755
1000Genomes East Asian Sub 1008 C=0.5337 T=0.4663
1000Genomes Europe Sub 1006 C=0.4771 T=0.5229
1000Genomes South Asian Sub 978 C=0.552 T=0.448
1000Genomes American Sub 694 C=0.494 T=0.506
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.4721 T=0.5279
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.4883 T=0.5117
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4641 T=0.5359
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5567 T=0.4433
HapMap Global Study-wide 1892 C=0.6422 T=0.3578
HapMap American Sub 770 C=0.557 T=0.443
HapMap African Sub 692 C=0.809 T=0.191
HapMap Asian Sub 254 C=0.512 T=0.488
HapMap Europe Sub 176 C=0.545 T=0.455
Korean Genome Project KOREAN Study-wide 1832 C=0.5759 T=0.4241
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.449 T=0.551
Northern Sweden ACPOP Study-wide 600 C=0.543 T=0.457
SGDP_PRJ Global Study-wide 388 C=0.325 T=0.675
Qatari Global Study-wide 216 C=0.579 T=0.421
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.528 T=0.472
The Danish reference pan genome Danish Study-wide 40 C=0.45 T=0.55
Siberian Global Study-wide 30 C=0.37 T=0.63
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 7 NC_000007.14:g.91954020C>G
GRCh38.p14 chr 7 NC_000007.14:g.91954020C>T
GRCh37.p13 chr 7 NC_000007.13:g.91583334C>G
GRCh37.p13 chr 7 NC_000007.13:g.91583334C>T
AKAP9 RefSeqGene (LRG_331) NG_011623.1:g.18146C>G
AKAP9 RefSeqGene (LRG_331) NG_011623.1:g.18146C>T
Gene: AKAP9, A-kinase anchoring protein 9 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AKAP9 transcript variant 2 NM_005751.5:c.48+12873C>G N/A Intron Variant
AKAP9 transcript variant 3 NM_147185.3:c.48+12873C>G N/A Intron Variant
AKAP9 transcript variant 6 NM_001379277.1: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.

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 C= G T
GRCh38.p14 chr 7 NC_000007.14:g.91954020= NC_000007.14:g.91954020C>G NC_000007.14:g.91954020C>T
GRCh37.p13 chr 7 NC_000007.13:g.91583334= NC_000007.13:g.91583334C>G NC_000007.13:g.91583334C>T
AKAP9 RefSeqGene (LRG_331) NG_011623.1:g.18146= NG_011623.1:g.18146C>G NG_011623.1:g.18146C>T
AKAP9 transcript variant 2 NM_005751.4:c.48+12873= NM_005751.4:c.48+12873C>G NM_005751.4:c.48+12873C>T
AKAP9 transcript variant 2 NM_005751.5:c.48+12873= NM_005751.5:c.48+12873C>G NM_005751.5:c.48+12873C>T
AKAP9 transcript variant 3 NM_147185.2:c.48+12873= NM_147185.2:c.48+12873C>G NM_147185.2:c.48+12873C>T
AKAP9 transcript variant 3 NM_147185.3:c.48+12873= NM_147185.3:c.48+12873C>G NM_147185.3:c.48+12873C>T
AKAP9 transcript variant X1 XM_005250102.1:c.48+12873= XM_005250102.1:c.48+12873C>G XM_005250102.1:c.48+12873C>T
AKAP9 transcript variant X2 XM_005250103.1:c.48+12873= XM_005250103.1:c.48+12873C>G XM_005250103.1:c.48+12873C>T
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#.

102 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss421 Sep 19, 2000 (36)
2 YUSUKE ss3222210 Sep 28, 2001 (100)
3 PERLEGEN ss24489085 Sep 20, 2004 (123)
4 ILLUMINA ss75124581 Dec 06, 2007 (129)
5 HGSV ss84015320 Dec 15, 2007 (130)
6 BGI ss104450355 Dec 01, 2009 (131)
7 1000GENOMES ss112352303 Jan 25, 2009 (130)
8 1000GENOMES ss114094430 Jan 25, 2009 (130)
9 ILLUMINA-UK ss116195162 Feb 14, 2009 (130)
10 KRIBB_YJKIM ss119336853 Dec 01, 2009 (131)
11 ENSEMBL ss142682648 Dec 01, 2009 (131)
12 GMI ss155192374 Dec 01, 2009 (131)
13 ILLUMINA ss160665465 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss162528924 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss164845320 Jul 04, 2010 (132)
16 ILLUMINA ss173696043 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss207981517 Jul 04, 2010 (132)
18 1000GENOMES ss223203776 Jul 14, 2010 (132)
19 1000GENOMES ss234075420 Jul 15, 2010 (132)
20 1000GENOMES ss241011347 Jul 15, 2010 (132)
21 GMI ss279438218 May 04, 2012 (137)
22 GMI ss285677191 Apr 25, 2013 (138)
23 PJP ss293916402 May 09, 2011 (134)
24 ILLUMINA ss480901893 May 04, 2012 (137)
25 ILLUMINA ss480920786 May 04, 2012 (137)
26 ILLUMINA ss481876574 Sep 08, 2015 (146)
27 ILLUMINA ss485245923 May 04, 2012 (137)
28 ILLUMINA ss537218413 Sep 08, 2015 (146)
29 TISHKOFF ss560153067 Apr 25, 2013 (138)
30 SSMP ss654554991 Apr 25, 2013 (138)
31 ILLUMINA ss778531357 Sep 08, 2015 (146)
32 ILLUMINA ss783068920 Sep 08, 2015 (146)
33 ILLUMINA ss784026784 Sep 08, 2015 (146)
34 ILLUMINA ss832327010 Sep 08, 2015 (146)
35 ILLUMINA ss833987887 Sep 08, 2015 (146)
36 EVA-GONL ss984538613 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1074794915 Aug 21, 2014 (142)
38 1000GENOMES ss1326135838 Aug 21, 2014 (142)
39 DDI ss1431208831 Apr 01, 2015 (144)
40 EVA_GENOME_DK ss1582306471 Apr 01, 2015 (144)
41 EVA_DECODE ss1594115529 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1618693717 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1661687750 Apr 01, 2015 (144)
44 EVA_SVP ss1712971029 Apr 01, 2015 (144)
45 ILLUMINA ss1752699772 Sep 08, 2015 (146)
46 WEILL_CORNELL_DGM ss1927799996 Feb 12, 2016 (147)
47 GENOMED ss1970760999 Jul 19, 2016 (147)
48 JJLAB ss2024583302 Sep 14, 2016 (149)
49 USC_VALOUEV ss2152804201 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2295781475 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2626783600 Nov 08, 2017 (151)
52 ILLUMINA ss2634632176 Nov 08, 2017 (151)
53 GRF ss2708511483 Nov 08, 2017 (151)
54 ILLUMINA ss2711115380 Nov 08, 2017 (151)
55 GNOMAD ss2856168228 Nov 08, 2017 (151)
56 SWEGEN ss3001626018 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3026085267 Nov 08, 2017 (151)
58 CSHL ss3347731033 Nov 08, 2017 (151)
59 ILLUMINA ss3629862303 Oct 12, 2018 (152)
60 ILLUMINA ss3632538215 Oct 12, 2018 (152)
61 ILLUMINA ss3633470345 Oct 12, 2018 (152)
62 ILLUMINA ss3634195616 Oct 12, 2018 (152)
63 ILLUMINA ss3635130329 Oct 12, 2018 (152)
64 ILLUMINA ss3635875246 Oct 12, 2018 (152)
65 ILLUMINA ss3636864017 Oct 12, 2018 (152)
66 ILLUMINA ss3637628246 Oct 12, 2018 (152)
67 ILLUMINA ss3638709990 Oct 12, 2018 (152)
68 ILLUMINA ss3640837621 Oct 12, 2018 (152)
69 ILLUMINA ss3643644971 Oct 12, 2018 (152)
70 URBANLAB ss3648701393 Oct 12, 2018 (152)
71 EGCUT_WGS ss3669381554 Jul 13, 2019 (153)
72 EVA_DECODE ss3720202844 Jul 13, 2019 (153)
73 ACPOP ss3734860231 Jul 13, 2019 (153)
74 ILLUMINA ss3745430341 Jul 13, 2019 (153)
75 EVA ss3766865057 Jul 13, 2019 (153)
76 ILLUMINA ss3772923240 Jul 13, 2019 (153)
77 PACBIO ss3785892415 Jul 13, 2019 (153)
78 PACBIO ss3791183302 Jul 13, 2019 (153)
79 PACBIO ss3796063264 Jul 13, 2019 (153)
80 KHV_HUMAN_GENOMES ss3810038396 Jul 13, 2019 (153)
81 EVA ss3830700159 Apr 26, 2020 (154)
82 EVA ss3838848901 Apr 26, 2020 (154)
83 EVA ss3844303832 Apr 26, 2020 (154)
84 SGDP_PRJ ss3867878985 Apr 26, 2020 (154)
85 KRGDB ss3915148119 Apr 26, 2020 (154)
86 KOGIC ss3962085813 Apr 26, 2020 (154)
87 TOPMED ss4754733755 Apr 26, 2021 (155)
88 TOMMO_GENOMICS ss5184424836 Apr 26, 2021 (155)
89 1000G_HIGH_COVERAGE ss5273852602 Oct 16, 2022 (156)
90 EVA ss5315263306 Oct 16, 2022 (156)
91 EVA ss5375174509 Oct 16, 2022 (156)
92 HUGCELL_USP ss5470840284 Oct 16, 2022 (156)
93 EVA ss5509048691 Oct 16, 2022 (156)
94 1000G_HIGH_COVERAGE ss5562541313 Oct 16, 2022 (156)
95 SANFORD_IMAGENETICS ss5643488577 Oct 16, 2022 (156)
96 TOMMO_GENOMICS ss5725062484 Oct 16, 2022 (156)
97 EVA ss5799730665 Oct 16, 2022 (156)
98 YY_MCH ss5808883029 Oct 16, 2022 (156)
99 EVA ss5823188247 Oct 16, 2022 (156)
100 EVA ss5856002999 Oct 16, 2022 (156)
101 EVA ss5859883139 Oct 16, 2022 (156)
102 EVA ss5972667104 Oct 16, 2022 (156)
103 1000Genomes NC_000007.13 - 91583334 Oct 12, 2018 (152)
104 1000Genomes_30x NC_000007.14 - 91954020 Oct 16, 2022 (156)
105 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 91583334 Oct 12, 2018 (152)
106 Genetic variation in the Estonian population NC_000007.13 - 91583334 Oct 12, 2018 (152)
107 The Danish reference pan genome NC_000007.13 - 91583334 Apr 26, 2020 (154)
108 gnomAD - Genomes NC_000007.14 - 91954020 Apr 26, 2021 (155)
109 Genome of the Netherlands Release 5 NC_000007.13 - 91583334 Apr 26, 2020 (154)
110 HapMap NC_000007.14 - 91954020 Apr 26, 2020 (154)
111 KOREAN population from KRGDB NC_000007.13 - 91583334 Apr 26, 2020 (154)
112 Korean Genome Project NC_000007.14 - 91954020 Apr 26, 2020 (154)
113 Northern Sweden NC_000007.13 - 91583334 Jul 13, 2019 (153)
114 Qatari NC_000007.13 - 91583334 Apr 26, 2020 (154)
115 SGDP_PRJ NC_000007.13 - 91583334 Apr 26, 2020 (154)
116 Siberian NC_000007.13 - 91583334 Apr 26, 2020 (154)
117 8.3KJPN NC_000007.13 - 91583334 Apr 26, 2021 (155)
118 14KJPN NC_000007.14 - 91954020 Oct 16, 2022 (156)
119 TopMed NC_000007.14 - 91954020 Apr 26, 2021 (155)
120 UK 10K study - Twins NC_000007.13 - 91583334 Oct 12, 2018 (152)
121 A Vietnamese Genetic Variation Database NC_000007.13 - 91583334 Jul 13, 2019 (153)
122 ALFA NC_000007.14 - 91954020 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)
rs17745812 Oct 08, 2004 (123)
rs59096645 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
752065520 NC_000007.14:91954019:C:G NC_000007.14:91954019:C:G (self)
ss84015320 NC_000007.11:91227984:C:T NC_000007.14:91954019:C:T (self)
ss112352303, ss114094430, ss116195162, ss162528924, ss164845320, ss207981517, ss279438218, ss285677191, ss293916402, ss480901893, ss1594115529, ss1712971029, ss3643644971 NC_000007.12:91421269:C:T NC_000007.14:91954019:C:T (self)
38142261, 21224374, 15119802, 8471410, 9477010, 22325513, 8145096, 9841926, 19895965, 5320555, 42394143, 21224374, 4734350, ss223203776, ss234075420, ss241011347, ss480920786, ss481876574, ss485245923, ss537218413, ss560153067, ss654554991, ss778531357, ss783068920, ss784026784, ss832327010, ss833987887, ss984538613, ss1074794915, ss1326135838, ss1431208831, ss1582306471, ss1618693717, ss1661687750, ss1752699772, ss1927799996, ss1970760999, ss2024583302, ss2152804201, ss2626783600, ss2634632176, ss2708511483, ss2711115380, ss2856168228, ss3001626018, ss3347731033, ss3629862303, ss3632538215, ss3633470345, ss3634195616, ss3635130329, ss3635875246, ss3636864017, ss3637628246, ss3638709990, ss3640837621, ss3669381554, ss3734860231, ss3745430341, ss3766865057, ss3772923240, ss3785892415, ss3791183302, ss3796063264, ss3830700159, ss3838848901, ss3867878985, ss3915148119, ss5184424836, ss5315263306, ss5375174509, ss5509048691, ss5643488577, ss5799730665, ss5823188247, ss5972667104 NC_000007.13:91583333:C:T NC_000007.14:91954019:C:T (self)
50067248, 269107977, 3446351, 18463814, 58899588, 592111314, 752065520, ss2295781475, ss3026085267, ss3648701393, ss3720202844, ss3810038396, ss3844303832, ss3962085813, ss4754733755, ss5273852602, ss5470840284, ss5562541313, ss5725062484, ss5808883029, ss5856002999, ss5859883139 NC_000007.14:91954019:C:T NC_000007.14:91954019:C:T (self)
ss421, ss3222210, ss24489085, ss75124581, ss104450355, ss119336853, ss142682648, ss155192374, ss160665465, ss173696043 NT_007933.15:29616176:C:T NC_000007.14:91954019:C:T (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 rs418

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