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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.

rs2493144

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:230679735 (GRCh38.p13) 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
T>A / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.449734 (119040/264690, TOPMED)
T=0.460424 (99203/215460, ALFA)
G=0.466014 (65269/140058, GnomAD) (+ 16 more)
G=0.33019 (5534/16760, 8.3KJPN)
G=0.3788 (1897/5008, 1000G)
T=0.4779 (2141/4480, Estonian)
T=0.4336 (1671/3854, ALSPAC)
T=0.4334 (1607/3708, TWINSUK)
G=0.2887 (846/2930, KOREAN)
G=0.3704 (772/2084, HGDP_Stanford)
G=0.3753 (710/1892, HapMap)
T=0.414 (413/998, GoNL)
T=0.415 (249/600, NorthernSweden)
T=0.357 (107/300, SGDP_PRJ)
T=0.481 (104/216, Qatari)
G=0.276 (59/214, Vietnamese)
T=0.43 (24/56, Ancient Sardinia)
T=0.40 (16/40, GENOME_DK)
T=0.45 (17/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
COG2 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.230679735T>A
GRCh38.p13 chr 1 NC_000001.11:g.230679735T>G
GRCh37.p13 chr 1 NC_000001.10:g.230815481T>A
GRCh37.p13 chr 1 NC_000001.10:g.230815481T>G
Gene: COG2, component of oligomeric golgi complex 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
COG2 transcript variant 2 NM_001145036.2:c.1166+683…

NM_001145036.2:c.1166+683T>A

N/A Intron Variant
COG2 transcript variant 1 NM_007357.3:c.1166+683T>A 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 215460 T=0.460424 A=0.000000, G=0.539576
European Sub 188314 T=0.441157 A=0.000000, G=0.558843
African Sub 6796 T=0.6695 A=0.0000, G=0.3305
African Others Sub 256 T=0.734 A=0.000, G=0.266
African American Sub 6540 T=0.6670 A=0.0000, G=0.3330
Asian Sub 746 T=0.731 A=0.000, G=0.269
East Asian Sub 600 T=0.722 A=0.000, G=0.278
Other Asian Sub 146 T=0.767 A=0.000, G=0.233
Latin American 1 Sub 844 T=0.502 A=0.000, G=0.498
Latin American 2 Sub 6898 T=0.6767 A=0.0000, G=0.3233
South Asian Sub 5040 T=0.5054 A=0.0000, G=0.4946
Other Sub 6822 T=0.4974 A=0.0000, G=0.5026


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 T=0.550266 G=0.449734
Allele Frequency Aggregator Total Global 215460 T=0.460424 A=0.000000, G=0.539576
Allele Frequency Aggregator European Sub 188314 T=0.441157 A=0.000000, G=0.558843
Allele Frequency Aggregator Latin American 2 Sub 6898 T=0.6767 A=0.0000, G=0.3233
Allele Frequency Aggregator Other Sub 6822 T=0.4974 A=0.0000, G=0.5026
Allele Frequency Aggregator African Sub 6796 T=0.6695 A=0.0000, G=0.3305
Allele Frequency Aggregator South Asian Sub 5040 T=0.5054 A=0.0000, G=0.4946
Allele Frequency Aggregator Latin American 1 Sub 844 T=0.502 A=0.000, G=0.498
Allele Frequency Aggregator Asian Sub 746 T=0.731 A=0.000, G=0.269
gnomAD - Genomes Global Study-wide 140058 T=0.533986 G=0.466014
gnomAD - Genomes European Sub 75850 T=0.44952 G=0.55048
gnomAD - Genomes African Sub 41976 T=0.65311 G=0.34689
gnomAD - Genomes American Sub 13642 T=0.60299 G=0.39701
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.4506 G=0.5494
gnomAD - Genomes East Asian Sub 3114 T=0.7624 G=0.2376
gnomAD - Genomes Other Sub 2154 T=0.5483 G=0.4517
8.3KJPN JAPANESE Study-wide 16760 T=0.66981 G=0.33019
1000Genomes Global Study-wide 5008 T=0.6212 G=0.3788
1000Genomes African Sub 1322 T=0.7103 G=0.2897
1000Genomes East Asian Sub 1008 T=0.7569 G=0.2431
1000Genomes Europe Sub 1006 T=0.4553 G=0.5447
1000Genomes South Asian Sub 978 T=0.508 G=0.492
1000Genomes American Sub 694 T=0.654 G=0.346
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4779 G=0.5221
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4336 G=0.5664
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4334 G=0.5666
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7113 G=0.2887
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.6296 G=0.3704
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.717 G=0.283
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.519 G=0.481
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.460 G=0.540
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.475 G=0.525
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.748 G=0.252
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.903 G=0.097
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.99 G=0.01
HapMap Global Study-wide 1892 T=0.6247 G=0.3753
HapMap American Sub 770 T=0.544 G=0.456
HapMap African Sub 692 T=0.717 G=0.283
HapMap Asian Sub 254 T=0.760 G=0.240
HapMap Europe Sub 176 T=0.420 G=0.580
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.414 G=0.586
Northern Sweden ACPOP Study-wide 600 T=0.415 G=0.585
SGDP_PRJ Global Study-wide 300 T=0.357 G=0.643
Qatari Global Study-wide 216 T=0.481 G=0.519
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.724 G=0.276
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 56 T=0.43 G=0.57
The Danish reference pan genome Danish Study-wide 40 T=0.40 G=0.60
Siberian Global Study-wide 38 T=0.45 G=0.55
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= A G
GRCh38.p13 chr 1 NC_000001.11:g.230679735= NC_000001.11:g.230679735T>A NC_000001.11:g.230679735T>G
GRCh37.p13 chr 1 NC_000001.10:g.230815481= NC_000001.10:g.230815481T>A NC_000001.10:g.230815481T>G
COG2 transcript variant 2 NM_001145036.1:c.1166+683= NM_001145036.1:c.1166+683T>A NM_001145036.1:c.1166+683T>G
COG2 transcript variant 2 NM_001145036.2:c.1166+683= NM_001145036.2:c.1166+683T>A NM_001145036.2:c.1166+683T>G
COG2 transcript variant 1 NM_007357.2:c.1166+683= NM_007357.2:c.1166+683T>A NM_007357.2:c.1166+683T>G
COG2 transcript variant 1 NM_007357.3:c.1166+683= NM_007357.3:c.1166+683T>A NM_007357.3:c.1166+683T>G
COG2 transcript variant X1 XM_005273087.1:c.233+683= XM_005273087.1:c.233+683T>A XM_005273087.1:c.233+683T>G
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#.

113 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3498235 Sep 28, 2001 (100)
2 YUSUKE ss4976016 Aug 28, 2002 (108)
3 SC_SNP ss13027297 Dec 05, 2003 (123)
4 CSHL-HAPMAP ss16388786 Feb 27, 2004 (120)
5 SSAHASNP ss20472662 Apr 05, 2004 (121)
6 PERLEGEN ss24296547 Sep 20, 2004 (123)
7 ABI ss43943976 Mar 15, 2006 (126)
8 SI_EXO ss61707218 Oct 13, 2006 (127)
9 ILLUMINA ss67257503 Nov 29, 2006 (127)
10 ILLUMINA ss67656086 Nov 29, 2006 (127)
11 ILLUMINA ss68206180 Dec 12, 2006 (127)
12 PERLEGEN ss68795917 May 16, 2007 (127)
13 ILLUMINA ss70735860 May 25, 2008 (130)
14 ILLUMINA ss71306011 May 16, 2007 (127)
15 ILLUMINA ss75585836 Dec 06, 2007 (129)
16 KRIBB_YJKIM ss84053773 Dec 15, 2007 (130)
17 BCMHGSC_JDW ss88003397 Mar 23, 2008 (129)
18 HUMANGENOME_JCVI ss99294590 Feb 05, 2009 (130)
19 1000GENOMES ss109020948 Jan 23, 2009 (130)
20 1000GENOMES ss111913679 Jan 25, 2009 (130)
21 ENSEMBL ss138170473 Dec 01, 2009 (131)
22 ENSEMBL ss139040880 Dec 01, 2009 (131)
23 ILLUMINA ss153915900 Dec 01, 2009 (131)
24 GMI ss156401633 Dec 01, 2009 (131)
25 ILLUMINA ss159393689 Dec 01, 2009 (131)
26 ILLUMINA ss160552624 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss165368268 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss165885347 Jul 04, 2010 (132)
29 ILLUMINA ss173369642 Jul 04, 2010 (132)
30 BUSHMAN ss199728919 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss205050182 Jul 04, 2010 (132)
32 1000GENOMES ss218933221 Jul 14, 2010 (132)
33 1000GENOMES ss230940827 Jul 14, 2010 (132)
34 1000GENOMES ss238547404 Jul 15, 2010 (132)
35 BL ss253883939 May 09, 2011 (134)
36 GMI ss276256011 May 04, 2012 (137)
37 GMI ss284245027 Apr 25, 2013 (138)
38 PJP ss290753129 May 09, 2011 (134)
39 ILLUMINA ss410923600 Sep 17, 2011 (135)
40 ILLUMINA ss480585204 May 04, 2012 (137)
41 ILLUMINA ss480599647 May 04, 2012 (137)
42 ILLUMINA ss481424794 Sep 08, 2015 (146)
43 ILLUMINA ss485088024 May 04, 2012 (137)
44 ILLUMINA ss537096954 Sep 08, 2015 (146)
45 TISHKOFF ss555199549 Apr 25, 2013 (138)
46 SSMP ss648772763 Apr 25, 2013 (138)
47 ILLUMINA ss778700612 Sep 08, 2015 (146)
48 ILLUMINA ss782990285 Sep 08, 2015 (146)
49 ILLUMINA ss783951089 Sep 08, 2015 (146)
50 ILLUMINA ss832247084 Sep 08, 2015 (146)
51 ILLUMINA ss832905430 Jul 12, 2019 (153)
52 ILLUMINA ss834159545 Sep 08, 2015 (146)
53 EVA-GONL ss976245717 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1068678100 Aug 21, 2014 (142)
55 1000GENOMES ss1295033992 Aug 21, 2014 (142)
56 DDI ss1426140603 Apr 01, 2015 (144)
57 EVA_GENOME_DK ss1574742012 Apr 01, 2015 (144)
58 EVA_DECODE ss1585645657 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1602344177 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1645338210 Apr 01, 2015 (144)
61 EVA_SVP ss1712412833 Apr 01, 2015 (144)
62 ILLUMINA ss1751904284 Sep 08, 2015 (146)
63 HAMMER_LAB ss1795861811 Sep 08, 2015 (146)
64 WEILL_CORNELL_DGM ss1919467446 Feb 12, 2016 (147)
65 GENOMED ss1966996725 Jul 19, 2016 (147)
66 JJLAB ss2020258929 Sep 14, 2016 (149)
67 USC_VALOUEV ss2148294677 Dec 20, 2016 (150)
68 HUMAN_LONGEVITY ss2170878609 Dec 20, 2016 (150)
69 TOPMED ss2333527319 Dec 20, 2016 (150)
70 SYSTEMSBIOZJU ss2624641382 Nov 08, 2017 (151)
71 ILLUMINA ss2632641502 Nov 08, 2017 (151)
72 GRF ss2698294512 Nov 08, 2017 (151)
73 ILLUMINA ss2710696765 Nov 08, 2017 (151)
74 GNOMAD ss2767309136 Nov 08, 2017 (151)
75 SWEGEN ss2988609217 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3023890038 Nov 08, 2017 (151)
77 TOPMED ss3105896019 Nov 08, 2017 (151)
78 CSHL ss3343956592 Nov 08, 2017 (151)
79 ILLUMINA ss3626330523 Oct 11, 2018 (152)
80 ILLUMINA ss3630670681 Oct 11, 2018 (152)
81 ILLUMINA ss3632929004 Oct 11, 2018 (152)
82 ILLUMINA ss3633625234 Oct 11, 2018 (152)
83 ILLUMINA ss3634377943 Oct 11, 2018 (152)
84 ILLUMINA ss3635318248 Oct 11, 2018 (152)
85 ILLUMINA ss3636056958 Oct 11, 2018 (152)
86 ILLUMINA ss3637068804 Oct 11, 2018 (152)
87 ILLUMINA ss3637819694 Oct 11, 2018 (152)
88 ILLUMINA ss3638924873 Oct 11, 2018 (152)
89 ILLUMINA ss3639774128 Oct 11, 2018 (152)
90 ILLUMINA ss3640085296 Oct 11, 2018 (152)
91 ILLUMINA ss3642825645 Oct 11, 2018 (152)
92 ILLUMINA ss3643827230 Oct 11, 2018 (152)
93 URBANLAB ss3646907407 Oct 11, 2018 (152)
94 EGCUT_WGS ss3656567580 Jul 12, 2019 (153)
95 EVA_DECODE ss3688818789 Jul 12, 2019 (153)
96 ACPOP ss3727945914 Jul 12, 2019 (153)
97 ILLUMINA ss3744678790 Jul 12, 2019 (153)
98 EVA ss3747457338 Jul 12, 2019 (153)
99 ILLUMINA ss3772179662 Jul 12, 2019 (153)
100 PACBIO ss3783713054 Jul 12, 2019 (153)
101 PACBIO ss3789321047 Jul 12, 2019 (153)
102 PACBIO ss3794193460 Jul 12, 2019 (153)
103 KHV_HUMAN_GENOMES ss3800459030 Jul 12, 2019 (153)
104 EVA ss3826693576 Apr 25, 2020 (154)
105 EVA ss3836748529 Apr 25, 2020 (154)
106 EVA ss3842160938 Apr 25, 2020 (154)
107 HGDP ss3847366508 Apr 25, 2020 (154)
108 SGDP_PRJ ss3851098271 Apr 25, 2020 (154)
109 KRGDB ss3896444577 Apr 25, 2020 (154)
110 EVA ss3984857945 Apr 25, 2021 (155)
111 EVA ss4016967370 Apr 25, 2021 (155)
112 TOPMED ss4486949907 Apr 25, 2021 (155)
113 TOMMO_GENOMICS ss5148874897 Apr 25, 2021 (155)
114 1000Genomes NC_000001.10 - 230815481 Oct 11, 2018 (152)
115 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 230815481 Oct 11, 2018 (152)
116 Genetic variation in the Estonian population NC_000001.10 - 230815481 Oct 11, 2018 (152)
117 The Danish reference pan genome NC_000001.10 - 230815481 Apr 25, 2020 (154)
118 gnomAD - Genomes NC_000001.11 - 230679735 Apr 25, 2021 (155)
119 Genome of the Netherlands Release 5 NC_000001.10 - 230815481 Apr 25, 2020 (154)
120 HGDP-CEPH-db Supplement 1 NC_000001.9 - 228882104 Apr 25, 2020 (154)
121 HapMap NC_000001.11 - 230679735 Apr 25, 2020 (154)
122 KOREAN population from KRGDB NC_000001.10 - 230815481 Apr 25, 2020 (154)
123 Northern Sweden NC_000001.10 - 230815481 Jul 12, 2019 (153)
124 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 230815481 Apr 25, 2021 (155)
125 Qatari NC_000001.10 - 230815481 Apr 25, 2020 (154)
126 SGDP_PRJ NC_000001.10 - 230815481 Apr 25, 2020 (154)
127 Siberian NC_000001.10 - 230815481 Apr 25, 2020 (154)
128 8.3KJPN NC_000001.10 - 230815481 Apr 25, 2021 (155)
129 TopMed NC_000001.11 - 230679735 Apr 25, 2021 (155)
130 UK 10K study - Twins NC_000001.10 - 230815481 Oct 11, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000001.10 - 230815481 Jul 12, 2019 (153)
132 ALFA NC_000001.11 - 230679735 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)
rs3789646 Oct 09, 2002 (108)
rs9432183 Sep 24, 2004 (123)
rs17784299 Oct 07, 2004 (123)
rs59012066 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
255940288 NC_000001.11:230679734:T:A NC_000001.11:230679734:T:A
ss3638924873, ss3639774128, ss3643827230 NC_000001.8:227122215:T:G NC_000001.11:230679734:T:G (self)
44400, ss88003397, ss109020948, ss111913679, ss165368268, ss165885347, ss199728919, ss205050182, ss253883939, ss276256011, ss284245027, ss290753129, ss480585204, ss1585645657, ss1712412833, ss3642825645, ss3847366508 NC_000001.9:228882103:T:G NC_000001.11:230679734:T:G (self)
5902435, 3263475, 2305828, 1925354, 1426092, 3621971, 1230779, 83872, 1509376, 3115251, 811031, 6844204, 3263475, 709835, ss218933221, ss230940827, ss238547404, ss480599647, ss481424794, ss485088024, ss537096954, ss555199549, ss648772763, ss778700612, ss782990285, ss783951089, ss832247084, ss832905430, ss834159545, ss976245717, ss1068678100, ss1295033992, ss1426140603, ss1574742012, ss1602344177, ss1645338210, ss1751904284, ss1795861811, ss1919467446, ss1966996725, ss2020258929, ss2148294677, ss2333527319, ss2624641382, ss2632641502, ss2698294512, ss2710696765, ss2767309136, ss2988609217, ss3343956592, ss3626330523, ss3630670681, ss3632929004, ss3633625234, ss3634377943, ss3635318248, ss3636056958, ss3637068804, ss3637819694, ss3640085296, ss3656567580, ss3727945914, ss3744678790, ss3747457338, ss3772179662, ss3783713054, ss3789321047, ss3794193460, ss3826693576, ss3836748529, ss3851098271, ss3896444577, ss3984857945, ss4016967370, ss5148874897 NC_000001.10:230815480:T:G NC_000001.11:230679734:T:G (self)
42355201, 287964, 31773717, 50556242, 255940288, ss2170878609, ss3023890038, ss3105896019, ss3646907407, ss3688818789, ss3800459030, ss3842160938, ss4486949907 NC_000001.11:230679734:T:G NC_000001.11:230679734:T:G (self)
ss61707218 NT_004559.12:6991674:T:G NC_000001.11:230679734:T:G (self)
ss13027297 NT_021973.15:746469:T:G NC_000001.11:230679734:T:G (self)
ss16388786, ss20472662 NT_021973.16:746469:T:G NC_000001.11:230679734:T:G (self)
ss3498235, ss4976016, ss24296547, ss43943976, ss67257503, ss67656086, ss68206180, ss68795917, ss70735860, ss71306011, ss75585836, ss84053773, ss99294590, ss138170473, ss139040880, ss153915900, ss156401633, ss159393689, ss160552624, ss173369642, ss410923600 NT_167186.1:24333259:T:G NC_000001.11:230679734:T:G (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 rs2493144

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.post596+ae089ad