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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.

rs2296716

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:1562444 (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>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.100404 (26576/264690, TOPMED)
T=0.116621 (22485/192804, ALFA)
T=0.35976 (10166/28258, 14KJPN) (+ 18 more)
T=0.35453 (5942/16760, 8.3KJPN)
T=0.1688 (1081/6404, 1000G_30x)
T=0.1783 (893/5008, 1000G)
T=0.0835 (374/4480, Estonian)
T=0.1352 (521/3854, ALSPAC)
T=0.1200 (445/3708, TWINSUK)
T=0.3836 (1124/2930, KOREAN)
T=0.1876 (391/2084, HGDP_Stanford)
T=0.1685 (270/1602, HapMap)
T=0.133 (133/998, GoNL)
T=0.132 (79/600, NorthernSweden)
T=0.079 (17/216, Qatari)
T=0.416 (89/214, Vietnamese)
C=0.380 (70/184, SGDP_PRJ)
T=0.09 (8/92, Ancient Sardinia)
T=0.07 (3/40, GENOME_DK)
C=0.50 (6/12, Siberian)
T=0.50 (6/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SSU72 : 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 192804 C=0.883379 A=0.000000, T=0.116621
European Sub 166038 C=0.884141 A=0.000000, T=0.115859
African Sub 6966 C=0.9800 A=0.0000, T=0.0200
African Others Sub 264 C=1.000 A=0.000, T=0.000
African American Sub 6702 C=0.9793 A=0.0000, T=0.0207
Asian Sub 628 C=0.597 A=0.000, T=0.403
East Asian Sub 494 C=0.591 A=0.000, T=0.409
Other Asian Sub 134 C=0.619 A=0.000, T=0.381
Latin American 1 Sub 816 C=0.919 A=0.000, T=0.081
Latin American 2 Sub 6796 C=0.9035 A=0.0000, T=0.0965
South Asian Sub 5000 C=0.7280 A=0.0000, T=0.2720
Other Sub 6560 C=0.8820 A=0.0000, T=0.1180


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=0.899596 T=0.100404
Allele Frequency Aggregator Total Global 192804 C=0.883379 A=0.000000, T=0.116621
Allele Frequency Aggregator European Sub 166038 C=0.884141 A=0.000000, T=0.115859
Allele Frequency Aggregator African Sub 6966 C=0.9800 A=0.0000, T=0.0200
Allele Frequency Aggregator Latin American 2 Sub 6796 C=0.9035 A=0.0000, T=0.0965
Allele Frequency Aggregator Other Sub 6560 C=0.8820 A=0.0000, T=0.1180
Allele Frequency Aggregator South Asian Sub 5000 C=0.7280 A=0.0000, T=0.2720
Allele Frequency Aggregator Latin American 1 Sub 816 C=0.919 A=0.000, T=0.081
Allele Frequency Aggregator Asian Sub 628 C=0.597 A=0.000, T=0.403
14KJPN JAPANESE Study-wide 28258 C=0.64024 T=0.35976
8.3KJPN JAPANESE Study-wide 16760 C=0.64547 T=0.35453
1000Genomes_30x Global Study-wide 6404 C=0.8312 T=0.1688
1000Genomes_30x African Sub 1786 C=0.9961 T=0.0039
1000Genomes_30x Europe Sub 1266 C=0.8752 T=0.1248
1000Genomes_30x South Asian Sub 1202 C=0.7097 T=0.2903
1000Genomes_30x East Asian Sub 1170 C=0.6051 T=0.3949
1000Genomes_30x American Sub 980 C=0.893 T=0.107
1000Genomes Global Study-wide 5008 C=0.8217 T=0.1783
1000Genomes African Sub 1322 C=0.9955 T=0.0045
1000Genomes East Asian Sub 1008 C=0.5972 T=0.4028
1000Genomes Europe Sub 1006 C=0.8767 T=0.1233
1000Genomes South Asian Sub 978 C=0.709 T=0.291
1000Genomes American Sub 694 C=0.896 T=0.104
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9165 T=0.0835
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8648 T=0.1352
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8800 T=0.1200
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6164 T=0.3836
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8124 T=0.1876
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.606 T=0.394
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.734 T=0.266
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.871 T=0.129
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.881 T=0.119
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=1.000 T=0.000
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.968 T=0.032
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.92 T=0.08
HapMap Global Study-wide 1602 C=0.8315 T=0.1685
HapMap American Sub 766 C=0.815 T=0.185
HapMap African Sub 406 C=0.998 T=0.002
HapMap Asian Sub 254 C=0.594 T=0.406
HapMap Europe Sub 176 C=0.864 T=0.136
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.867 T=0.133
Northern Sweden ACPOP Study-wide 600 C=0.868 T=0.132
Qatari Global Study-wide 216 C=0.921 T=0.079
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.584 T=0.416
SGDP_PRJ Global Study-wide 184 C=0.380 T=0.620
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 92 C=0.91 T=0.09
The Danish reference pan genome Danish Study-wide 40 C=0.93 T=0.07
Siberian Global Study-wide 12 C=0.50 T=0.50
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 1 NC_000001.11:g.1562444C>A
GRCh38.p14 chr 1 NC_000001.11:g.1562444C>T
GRCh37.p13 chr 1 NC_000001.10:g.1497824C>A
GRCh37.p13 chr 1 NC_000001.10:g.1497824C>T
Gene: SSU72, SSU72 homolog, RNA polymerase II CTD phosphatase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SSU72 transcript NM_014188.3:c.224+2329G>T 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 C= A T
GRCh38.p14 chr 1 NC_000001.11:g.1562444= NC_000001.11:g.1562444C>A NC_000001.11:g.1562444C>T
GRCh37.p13 chr 1 NC_000001.10:g.1497824= NC_000001.10:g.1497824C>A NC_000001.10:g.1497824C>T
SSU72 transcript NM_014188.2:c.224+2329= NM_014188.2:c.224+2329G>T NM_014188.2:c.224+2329G>A
SSU72 transcript NM_014188.3:c.224+2329= NM_014188.3:c.224+2329G>T NM_014188.3:c.224+2329G>A
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#.

114 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3240917 Sep 28, 2001 (100)
2 BCM_SSAHASNP ss9870514 Jul 11, 2003 (116)
3 SSAHASNP ss20569979 Apr 05, 2004 (121)
4 PERLEGEN ss23837270 Sep 20, 2004 (123)
5 ABI ss44050134 Mar 15, 2006 (126)
6 ILLUMINA ss66836619 Nov 29, 2006 (127)
7 ILLUMINA ss67244004 Nov 29, 2006 (127)
8 ILLUMINA ss67640916 Nov 29, 2006 (127)
9 CSHL-HAPMAP ss68381024 Jan 12, 2007 (127)
10 ILLUMINA ss70722342 May 23, 2008 (130)
11 ILLUMINA ss71290834 May 17, 2007 (127)
12 ILLUMINA ss75871353 Dec 06, 2007 (129)
13 ILLUMINA ss79127922 Dec 14, 2007 (130)
14 KRIBB_YJKIM ss84026954 Dec 14, 2007 (130)
15 BCMHGSC_JDW ss87159994 Mar 23, 2008 (129)
16 HUMANGENOME_JCVI ss99179961 Feb 04, 2009 (130)
17 BGI ss102713802 Feb 04, 2009 (130)
18 1000GENOMES ss107938697 Jan 22, 2009 (130)
19 ILLUMINA ss121993446 Dec 01, 2009 (131)
20 ENSEMBL ss137755166 Dec 01, 2009 (131)
21 ENSEMBL ss139217176 Dec 01, 2009 (131)
22 ILLUMINA ss153901275 Dec 01, 2009 (131)
23 ILLUMINA ss159379086 Dec 01, 2009 (131)
24 ILLUMINA ss160532221 Dec 01, 2009 (131)
25 ILLUMINA ss171175815 Jul 04, 2010 (132)
26 ILLUMINA ss173268107 Jul 04, 2010 (132)
27 1000GENOMES ss230397285 Jul 14, 2010 (132)
28 1000GENOMES ss238116665 Jul 15, 2010 (132)
29 GMI ss275683687 May 04, 2012 (137)
30 GMI ss283988470 Apr 25, 2013 (138)
31 PJP ss290494859 May 09, 2011 (134)
32 ILLUMINA ss480518355 May 04, 2012 (137)
33 ILLUMINA ss480532648 May 04, 2012 (137)
34 ILLUMINA ss481343359 Sep 08, 2015 (146)
35 ILLUMINA ss485056536 May 04, 2012 (137)
36 ILLUMINA ss537073223 Sep 08, 2015 (146)
37 SSMP ss647521247 Apr 25, 2013 (138)
38 ILLUMINA ss778491036 Aug 21, 2014 (142)
39 ILLUMINA ss782974479 Aug 21, 2014 (142)
40 ILLUMINA ss783935762 Aug 21, 2014 (142)
41 ILLUMINA ss825458440 Jul 19, 2016 (147)
42 ILLUMINA ss832230856 Apr 01, 2015 (144)
43 ILLUMINA ss832890880 Aug 21, 2014 (142)
44 ILLUMINA ss833481710 Aug 21, 2014 (142)
45 ILLUMINA ss833947040 Aug 21, 2014 (142)
46 EVA-GONL ss974776295 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1067615767 Aug 21, 2014 (142)
48 1000GENOMES ss1289369312 Aug 21, 2014 (142)
49 EVA_GENOME_DK ss1573853341 Apr 01, 2015 (144)
50 EVA_DECODE ss1584136243 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1599390047 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1642384080 Apr 01, 2015 (144)
53 EVA_SVP ss1712305726 Apr 01, 2015 (144)
54 ILLUMINA ss1751869491 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1917969187 Feb 12, 2016 (147)
56 GENOMED ss1966668256 Jul 19, 2016 (147)
57 JJLAB ss2019501900 Sep 14, 2016 (149)
58 ILLUMINA ss2094782218 Dec 20, 2016 (150)
59 ILLUMINA ss2094948895 Dec 20, 2016 (150)
60 USC_VALOUEV ss2147489361 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2159417466 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2624266660 Nov 08, 2017 (151)
63 ILLUMINA ss2632466086 Nov 08, 2017 (151)
64 GRF ss2697380120 Nov 08, 2017 (151)
65 GNOMAD ss2750726890 Nov 08, 2017 (151)
66 SWEGEN ss2986162311 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3023514987 Nov 08, 2017 (151)
68 CSHL ss3343276803 Nov 08, 2017 (151)
69 ILLUMINA ss3626007929 Oct 11, 2018 (152)
70 ILLUMINA ss3630506024 Oct 11, 2018 (152)
71 ILLUMINA ss3632878125 Oct 11, 2018 (152)
72 ILLUMINA ss3633571593 Oct 11, 2018 (152)
73 ILLUMINA ss3634302476 Oct 11, 2018 (152)
74 ILLUMINA ss3635265789 Oct 11, 2018 (152)
75 ILLUMINA ss3635978912 Oct 11, 2018 (152)
76 ILLUMINA ss3637016133 Oct 11, 2018 (152)
77 ILLUMINA ss3637732742 Oct 11, 2018 (152)
78 ILLUMINA ss3638887902 Oct 11, 2018 (152)
79 ILLUMINA ss3639440664 Oct 11, 2018 (152)
80 ILLUMINA ss3640009842 Oct 11, 2018 (152)
81 ILLUMINA ss3642747006 Oct 11, 2018 (152)
82 URBANLAB ss3646582513 Oct 11, 2018 (152)
83 ILLUMINA ss3651366817 Oct 11, 2018 (152)
84 EGCUT_WGS ss3654271713 Jul 12, 2019 (153)
85 EVA_DECODE ss3686007480 Jul 12, 2019 (153)
86 ACPOP ss3726722700 Jul 12, 2019 (153)
87 ILLUMINA ss3744603406 Jul 12, 2019 (153)
88 EVA ss3745729633 Jul 12, 2019 (153)
89 ILLUMINA ss3772105153 Jul 12, 2019 (153)
90 KHV_HUMAN_GENOMES ss3798752631 Jul 12, 2019 (153)
91 EVA ss3825550050 Apr 25, 2020 (154)
92 EVA ss3825984712 Apr 25, 2020 (154)
93 EVA ss3836379580 Apr 25, 2020 (154)
94 EVA ss3841783624 Apr 25, 2020 (154)
95 HGDP ss3847322155 Apr 25, 2020 (154)
96 SGDP_PRJ ss3848016441 Apr 25, 2020 (154)
97 KRGDB ss3892860744 Apr 25, 2020 (154)
98 EVA ss3984774171 Apr 25, 2021 (155)
99 EVA ss4016889286 Apr 25, 2021 (155)
100 TOPMED ss4436670385 Apr 25, 2021 (155)
101 TOMMO_GENOMICS ss5142090885 Apr 25, 2021 (155)
102 1000G_HIGH_COVERAGE ss5240891149 Oct 12, 2022 (156)
103 EVA ss5314586246 Oct 12, 2022 (156)
104 EVA ss5316229098 Oct 12, 2022 (156)
105 HUGCELL_USP ss5442134028 Oct 12, 2022 (156)
106 1000G_HIGH_COVERAGE ss5512526817 Oct 12, 2022 (156)
107 SANFORD_IMAGENETICS ss5624764753 Oct 12, 2022 (156)
108 TOMMO_GENOMICS ss5666244464 Oct 12, 2022 (156)
109 EVA ss5799472642 Oct 12, 2022 (156)
110 YY_MCH ss5800250419 Oct 12, 2022 (156)
111 EVA ss5831429823 Oct 12, 2022 (156)
112 EVA ss5848751210 Oct 12, 2022 (156)
113 EVA ss5906732572 Oct 12, 2022 (156)
114 EVA ss5936595823 Oct 12, 2022 (156)
115 1000Genomes NC_000001.10 - 1497824 Oct 11, 2018 (152)
116 1000Genomes_30x NC_000001.11 - 1562444 Oct 12, 2022 (156)
117 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1497824 Oct 11, 2018 (152)
118 Genetic variation in the Estonian population NC_000001.10 - 1497824 Oct 11, 2018 (152)
119 The Danish reference pan genome NC_000001.10 - 1497824 Apr 25, 2020 (154)
120 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 272560 (NC_000001.11:1562443:C:A 1/140108)
Row 272561 (NC_000001.11:1562443:C:T 13844/140094)

- Apr 25, 2021 (155)
121 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 272560 (NC_000001.11:1562443:C:A 1/140108)
Row 272561 (NC_000001.11:1562443:C:T 13844/140094)

- Apr 25, 2021 (155)
122 Genome of the Netherlands Release 5 NC_000001.10 - 1497824 Apr 25, 2020 (154)
123 HGDP-CEPH-db Supplement 1 NC_000001.9 - 1487687 Apr 25, 2020 (154)
124 HapMap NC_000001.11 - 1562444 Apr 25, 2020 (154)
125 KOREAN population from KRGDB NC_000001.10 - 1497824 Apr 25, 2020 (154)
126 Northern Sweden NC_000001.10 - 1497824 Jul 12, 2019 (153)
127 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 1497824 Apr 25, 2021 (155)
128 Qatari NC_000001.10 - 1497824 Apr 25, 2020 (154)
129 SGDP_PRJ NC_000001.10 - 1497824 Apr 25, 2020 (154)
130 Siberian NC_000001.10 - 1497824 Apr 25, 2020 (154)
131 8.3KJPN NC_000001.10 - 1497824 Apr 25, 2021 (155)
132 14KJPN NC_000001.11 - 1562444 Oct 12, 2022 (156)
133 TopMed NC_000001.11 - 1562444 Apr 25, 2021 (155)
134 UK 10K study - Twins NC_000001.10 - 1497824 Oct 11, 2018 (152)
135 A Vietnamese Genetic Variation Database NC_000001.10 - 1497824 Jul 12, 2019 (153)
136 ALFA NC_000001.11 - 1562444 Apr 25, 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)
rs57218417 May 23, 2008 (130)
rs386564125 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4168649727 NC_000001.11:1562443:C:A NC_000001.11:1562443:C:A (self)
ss3638887902, ss3639440664 NC_000001.8:1583090:C:T NC_000001.11:1562443:C:T (self)
47, ss87159994, ss107938697, ss275683687, ss283988470, ss290494859, ss480518355, ss825458440, ss1584136243, ss1712305726, ss3642747006, ss3847322155 NC_000001.9:1487686:C:T NC_000001.11:1562443:C:T (self)
35017, 13139, 9961, 1360575, 5493, 38138, 7565, 98, 11117, 33421, 5715, 60192, 13139, 2692, ss230397285, ss238116665, ss480532648, ss481343359, ss485056536, ss537073223, ss647521247, ss778491036, ss782974479, ss783935762, ss832230856, ss832890880, ss833481710, ss833947040, ss974776295, ss1067615767, ss1289369312, ss1573853341, ss1599390047, ss1642384080, ss1751869491, ss1917969187, ss1966668256, ss2019501900, ss2094782218, ss2094948895, ss2147489361, ss2624266660, ss2632466086, ss2697380120, ss2750726890, ss2986162311, ss3343276803, ss3626007929, ss3630506024, ss3632878125, ss3633571593, ss3634302476, ss3635265789, ss3635978912, ss3637016133, ss3637732742, ss3640009842, ss3651366817, ss3654271713, ss3726722700, ss3744603406, ss3745729633, ss3772105153, ss3825550050, ss3825984712, ss3836379580, ss3848016441, ss3892860744, ss3984774171, ss4016889286, ss5142090885, ss5314586246, ss5316229098, ss5624764753, ss5799472642, ss5831429823, ss5936595823 NC_000001.10:1497823:C:T NC_000001.11:1562443:C:T (self)
52752, 531, 81568, 276720, 4168649727, ss2159417466, ss3023514987, ss3646582513, ss3686007480, ss3798752631, ss3841783624, ss4436670385, ss5240891149, ss5442134028, ss5512526817, ss5666244464, ss5800250419, ss5848751210, ss5906732572 NC_000001.11:1562443:C:T NC_000001.11:1562443:C:T (self)
ss3240917, ss23837270, ss44050134, ss66836619, ss67244004, ss67640916, ss68381024, ss70722342, ss71290834, ss75871353, ss79127922, ss84026954, ss99179961, ss102713802, ss121993446, ss137755166, ss139217176, ss153901275, ss159379086, ss160532221, ss171175815, ss173268107 NT_004350.19:976455:C:T NC_000001.11:1562443:C:T (self)
ss9870514 NT_077914.1:173446:C:T NC_000001.11:1562443:C:T (self)
ss20569979 NT_077914.2:173295:C:T NC_000001.11:1562443: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 rs2296716

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