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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs2289136

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:48652075 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.192996 (51084/264690, TOPMED)
G=0.162676 (33361/205076, GENOGRAPHIC)
G=0.188897 (26455/140050, GnomAD) (+ 20 more)
G=0.16473 (11400/69204, ALFA)
G=0.13186 (3726/28258, 14KJPN)
G=0.13234 (2218/16760, 8.3KJPN)
G=0.2106 (1349/6404, 1000G_30x)
G=0.2101 (1052/5008, 1000G)
G=0.1422 (637/4480, Estonian)
G=0.1469 (566/3854, ALSPAC)
G=0.1626 (603/3708, TWINSUK)
G=0.1201 (352/2930, KOREAN)
G=0.2046 (426/2082, HGDP_Stanford)
G=0.2101 (397/1890, HapMap)
G=0.123 (123/998, GoNL)
G=0.133 (80/600, NorthernSweden)
G=0.153 (79/516, SGDP_PRJ)
G=0.292 (63/216, Qatari)
G=0.215 (46/214, Vietnamese)
G=0.50 (30/60, Ancient Sardinia)
A=0.50 (30/60, Ancient Sardinia)
G=0.11 (6/54, Siberian)
G=0.17 (7/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FBN1-DT : Non Coding Transcript Variant
Publications
1 citation
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 69204 G=0.16473 A=0.83527
European Sub 56614 G=0.15705 A=0.84295
African Sub 4526 G=0.2696 A=0.7304
African Others Sub 170 G=0.324 A=0.676
African American Sub 4356 G=0.2674 A=0.7326
Asian Sub 190 G=0.168 A=0.832
East Asian Sub 148 G=0.169 A=0.831
Other Asian Sub 42 G=0.17 A=0.83
Latin American 1 Sub 254 G=0.169 A=0.831
Latin American 2 Sub 1232 G=0.1477 A=0.8523
South Asian Sub 4956 G=0.1558 A=0.8442
Other Sub 1432 G=0.1816 A=0.8184


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 G=0.192996 A=0.807004
Genographic Project Global Study-wide 205076 G=0.162676 A=0.837324
gnomAD - Genomes Global Study-wide 140050 G=0.188897 A=0.811103
gnomAD - Genomes European Sub 75904 G=0.15116 A=0.84884
gnomAD - Genomes African Sub 41892 G=0.26685 A=0.73315
gnomAD - Genomes American Sub 13648 G=0.17006 A=0.82994
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.1856 A=0.8144
gnomAD - Genomes East Asian Sub 3130 G=0.1514 A=0.8486
gnomAD - Genomes Other Sub 2152 G=0.1812 A=0.8188
Allele Frequency Aggregator Total Global 69204 G=0.16473 A=0.83527
Allele Frequency Aggregator European Sub 56614 G=0.15705 A=0.84295
Allele Frequency Aggregator South Asian Sub 4956 G=0.1558 A=0.8442
Allele Frequency Aggregator African Sub 4526 G=0.2696 A=0.7304
Allele Frequency Aggregator Other Sub 1432 G=0.1816 A=0.8184
Allele Frequency Aggregator Latin American 2 Sub 1232 G=0.1477 A=0.8523
Allele Frequency Aggregator Latin American 1 Sub 254 G=0.169 A=0.831
Allele Frequency Aggregator Asian Sub 190 G=0.168 A=0.832
14KJPN JAPANESE Study-wide 28258 G=0.13186 A=0.86814
8.3KJPN JAPANESE Study-wide 16760 G=0.13234 A=0.86766
1000Genomes_30x Global Study-wide 6404 G=0.2106 A=0.7894
1000Genomes_30x African Sub 1786 G=0.3141 A=0.6859
1000Genomes_30x Europe Sub 1266 G=0.1651 A=0.8349
1000Genomes_30x South Asian Sub 1202 G=0.2022 A=0.7978
1000Genomes_30x East Asian Sub 1170 G=0.1530 A=0.8470
1000Genomes_30x American Sub 980 G=0.160 A=0.840
1000Genomes Global Study-wide 5008 G=0.2101 A=0.7899
1000Genomes African Sub 1322 G=0.3238 A=0.6762
1000Genomes East Asian Sub 1008 G=0.1528 A=0.8472
1000Genomes Europe Sub 1006 G=0.1680 A=0.8320
1000Genomes South Asian Sub 978 G=0.191 A=0.809
1000Genomes American Sub 694 G=0.164 A=0.836
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.1422 A=0.8578
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1469 A=0.8531
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1626 A=0.8374
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1201 A=0.8799, C=0.0000, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 G=0.2046 A=0.7954
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.128 A=0.872
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.123 A=0.877
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.220 A=0.780
HGDP-CEPH-db Supplement 1 Europe Sub 318 G=0.223 A=0.777
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.380 A=0.620
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.097 A=0.903
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.75 A=0.25
HapMap Global Study-wide 1890 G=0.2101 A=0.7899
HapMap American Sub 770 G=0.162 A=0.838
HapMap African Sub 690 G=0.314 A=0.686
HapMap Asian Sub 254 G=0.098 A=0.902
HapMap Europe Sub 176 G=0.170 A=0.830
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.123 A=0.877
Northern Sweden ACPOP Study-wide 600 G=0.133 A=0.867
SGDP_PRJ Global Study-wide 516 G=0.153 A=0.847
Qatari Global Study-wide 216 G=0.292 A=0.708
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.215 A=0.785
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 G=0.50 A=0.50
Siberian Global Study-wide 54 G=0.11 A=0.89
The Danish reference pan genome Danish Study-wide 40 G=0.17 A=0.82
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 15 NC_000015.10:g.48652075G>A
GRCh38.p14 chr 15 NC_000015.10:g.48652075G>C
GRCh38.p14 chr 15 NC_000015.10:g.48652075G>T
GRCh37.p13 chr 15 NC_000015.9:g.48944272G>A
GRCh37.p13 chr 15 NC_000015.9:g.48944272G>C
GRCh37.p13 chr 15 NC_000015.9:g.48944272G>T
Gene: FBN1-DT, uncharacterized FBN1-DT (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FBN1-DT transcript variant X1 XR_932209.4:n.2394G>A N/A Non Coding Transcript Variant
FBN1-DT transcript variant X1 XR_932209.4:n.2394G>C N/A Non Coding Transcript Variant
FBN1-DT transcript variant X1 XR_932209.4:n.2394G>T N/A Non Coding Transcript Variant
FBN1-DT transcript variant X2 XR_007064627.1:n.2117G>A N/A Non Coding Transcript Variant
FBN1-DT transcript variant X2 XR_007064627.1:n.2117G>C N/A Non Coding Transcript Variant
FBN1-DT transcript variant X2 XR_007064627.1:n.2117G>T N/A Non Coding 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 G= A C T
GRCh38.p14 chr 15 NC_000015.10:g.48652075= NC_000015.10:g.48652075G>A NC_000015.10:g.48652075G>C NC_000015.10:g.48652075G>T
GRCh37.p13 chr 15 NC_000015.9:g.48944272= NC_000015.9:g.48944272G>A NC_000015.9:g.48944272G>C NC_000015.9:g.48944272G>T
FBN1-DT transcript variant X1 XR_932209.4:n.2394= XR_932209.4:n.2394G>A XR_932209.4:n.2394G>C XR_932209.4:n.2394G>T
FBN1-DT transcript variant X2 XR_007064627.1:n.2117= XR_007064627.1:n.2117G>A XR_007064627.1:n.2117G>C XR_007064627.1:n.2117G>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#.

106 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3230527 Sep 28, 2001 (100)
2 WI_SSAHASNP ss6589019 Feb 20, 2003 (111)
3 BCM_SSAHASNP ss10796309 Jul 11, 2003 (116)
4 WI_SSAHASNP ss12338790 Jul 11, 2003 (116)
5 CSHL-HAPMAP ss17540429 Feb 27, 2004 (120)
6 SSAHASNP ss21294993 Apr 05, 2004 (121)
7 ABI ss43723423 Mar 15, 2006 (126)
8 ILLUMINA ss66612651 Dec 03, 2006 (127)
9 ILLUMINA ss67242758 Dec 03, 2006 (127)
10 ILLUMINA ss67639574 Dec 03, 2006 (127)
11 ILLUMINA ss70721102 May 25, 2008 (130)
12 ILLUMINA ss71289498 May 16, 2007 (127)
13 ILLUMINA ss75481855 Dec 07, 2007 (129)
14 HGSV ss78425259 Dec 07, 2007 (129)
15 ILLUMINA ss79126976 Dec 15, 2007 (130)
16 KRIBB_YJKIM ss84023289 Dec 15, 2007 (130)
17 HGSV ss85682893 Dec 15, 2007 (130)
18 BCMHGSC_JDW ss90147266 Mar 24, 2008 (129)
19 HUMANGENOME_JCVI ss96756239 Feb 05, 2009 (130)
20 BGI ss106427238 Feb 05, 2009 (130)
21 1000GENOMES ss108795035 Jan 23, 2009 (130)
22 1000GENOMES ss114139351 Jan 25, 2009 (130)
23 ILLUMINA-UK ss118217635 Feb 14, 2009 (130)
24 ILLUMINA ss121987941 Dec 01, 2009 (131)
25 ENSEMBL ss134275665 Dec 01, 2009 (131)
26 ENSEMBL ss136910832 Dec 01, 2009 (131)
27 ILLUMINA ss153899977 Dec 01, 2009 (131)
28 GMI ss156510402 Dec 01, 2009 (131)
29 ILLUMINA ss159377809 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss167955503 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss169382663 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss171060130 Jul 04, 2010 (132)
33 ILLUMINA ss171165095 Jul 04, 2010 (132)
34 ILLUMINA ss173256553 Jul 04, 2010 (132)
35 BUSHMAN ss200814588 Jul 04, 2010 (132)
36 BCM-HGSC-SUB ss207192570 Jul 04, 2010 (132)
37 1000GENOMES ss226880703 Jul 14, 2010 (132)
38 1000GENOMES ss236769282 Jul 15, 2010 (132)
39 1000GENOMES ss243157799 Jul 15, 2010 (132)
40 GMI ss282245659 May 04, 2012 (137)
41 GMI ss286948559 Apr 25, 2013 (138)
42 PJP ss291715542 May 09, 2011 (134)
43 ILLUMINA ss537070919 Sep 08, 2015 (146)
44 SSMP ss660187655 Apr 25, 2013 (138)
45 ILLUMINA ss825457494 Apr 01, 2015 (144)
46 ILLUMINA ss832889606 Aug 21, 2014 (142)
47 ILLUMINA ss833480436 Aug 21, 2014 (142)
48 EVA-GONL ss991762519 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1080106650 Aug 21, 2014 (142)
50 1000GENOMES ss1353371995 Aug 21, 2014 (142)
51 DDI ss1427618151 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1577599647 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1632947464 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1675941497 Apr 01, 2015 (144)
55 EVA_DECODE ss1695778803 Apr 01, 2015 (144)
56 EVA_SVP ss1713488030 Apr 01, 2015 (144)
57 HAMMER_LAB ss1808193188 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1935166364 Feb 12, 2016 (147)
59 GENOMED ss1968100677 Jul 19, 2016 (147)
60 JJLAB ss2028362207 Sep 14, 2016 (149)
61 ILLUMINA ss2095058874 Dec 20, 2016 (150)
62 USC_VALOUEV ss2156763386 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2206585042 Dec 20, 2016 (150)
64 SYSTEMSBIOZJU ss2628675066 Nov 08, 2017 (151)
65 GRF ss2701232398 Nov 08, 2017 (151)
66 GNOMAD ss2934639786 Nov 08, 2017 (151)
67 SWEGEN ss3013244820 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3028004149 Nov 08, 2017 (151)
69 CSHL ss3351104296 Nov 08, 2017 (151)
70 ILLUMINA ss3627355637 Oct 12, 2018 (152)
71 ILLUMINA ss3638084239 Oct 12, 2018 (152)
72 ILLUMINA ss3639055192 Oct 12, 2018 (152)
73 ILLUMINA ss3639532851 Oct 12, 2018 (152)
74 ILLUMINA ss3643068546 Oct 12, 2018 (152)
75 URBANLAB ss3650347922 Oct 12, 2018 (152)
76 ILLUMINA ss3652031660 Oct 12, 2018 (152)
77 EGCUT_WGS ss3680385787 Jul 13, 2019 (153)
78 EVA_DECODE ss3697846938 Jul 13, 2019 (153)
79 ACPOP ss3740902934 Jul 13, 2019 (153)
80 EVA ss3753055904 Jul 13, 2019 (153)
81 PACBIO ss3787838923 Jul 13, 2019 (153)
82 PACBIO ss3792851785 Jul 13, 2019 (153)
83 PACBIO ss3797736262 Jul 13, 2019 (153)
84 KHV_HUMAN_GENOMES ss3818374239 Jul 13, 2019 (153)
85 EVA ss3834222477 Apr 27, 2020 (154)
86 EVA ss3840709613 Apr 27, 2020 (154)
87 EVA ss3846198088 Apr 27, 2020 (154)
88 HGDP ss3847522789 Apr 27, 2020 (154)
89 SGDP_PRJ ss3882868816 Apr 27, 2020 (154)
90 KRGDB ss3932027995 Apr 27, 2020 (154)
91 EVA ss3985715136 Apr 26, 2021 (155)
92 EVA ss4017700595 Apr 26, 2021 (155)
93 TOPMED ss4990569112 Apr 26, 2021 (155)
94 TOMMO_GENOMICS ss5216086407 Apr 26, 2021 (155)
95 1000G_HIGH_COVERAGE ss5298361589 Oct 16, 2022 (156)
96 GENOGRAPHIC ss5314564468 Oct 16, 2022 (156)
97 EVA ss5419092292 Oct 16, 2022 (156)
98 HUGCELL_USP ss5492099134 Oct 16, 2022 (156)
99 1000G_HIGH_COVERAGE ss5599725478 Oct 16, 2022 (156)
100 SANFORD_IMAGENETICS ss5657464190 Oct 16, 2022 (156)
101 TOMMO_GENOMICS ss5769862020 Oct 16, 2022 (156)
102 YY_MCH ss5815312759 Oct 16, 2022 (156)
103 EVA ss5828170687 Oct 16, 2022 (156)
104 EVA ss5851283258 Oct 16, 2022 (156)
105 EVA ss5875784001 Oct 16, 2022 (156)
106 EVA ss5948862816 Oct 16, 2022 (156)
107 1000Genomes NC_000015.9 - 48944272 Oct 12, 2018 (152)
108 1000Genomes_30x NC_000015.10 - 48652075 Oct 16, 2022 (156)
109 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 48944272 Oct 12, 2018 (152)
110 Genetic variation in the Estonian population NC_000015.9 - 48944272 Oct 12, 2018 (152)
111 Genographic Project NC_000015.10 - 48652075 Oct 16, 2022 (156)
112 The Danish reference pan genome NC_000015.9 - 48944272 Apr 27, 2020 (154)
113 gnomAD - Genomes NC_000015.10 - 48652075 Apr 26, 2021 (155)
114 Genome of the Netherlands Release 5 NC_000015.9 - 48944272 Apr 27, 2020 (154)
115 HGDP-CEPH-db Supplement 1 NC_000015.8 - 46731564 Apr 27, 2020 (154)
116 HapMap NC_000015.10 - 48652075 Apr 27, 2020 (154)
117 KOREAN population from KRGDB NC_000015.9 - 48944272 Apr 27, 2020 (154)
118 Northern Sweden NC_000015.9 - 48944272 Jul 13, 2019 (153)
119 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000015.9 - 48944272 Apr 26, 2021 (155)
120 Qatari NC_000015.9 - 48944272 Apr 27, 2020 (154)
121 SGDP_PRJ NC_000015.9 - 48944272 Apr 27, 2020 (154)
122 Siberian NC_000015.9 - 48944272 Apr 27, 2020 (154)
123 8.3KJPN NC_000015.9 - 48944272 Apr 26, 2021 (155)
124 14KJPN NC_000015.10 - 48652075 Oct 16, 2022 (156)
125 TopMed NC_000015.10 - 48652075 Apr 26, 2021 (155)
126 UK 10K study - Twins NC_000015.9 - 48944272 Oct 12, 2018 (152)
127 A Vietnamese Genetic Variation Database NC_000015.9 - 48944272 Jul 13, 2019 (153)
128 ALFA NC_000015.10 - 48652075 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)
rs59385891 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
200681, ss78425259, ss85682893, ss90147266, ss108795035, ss114139351, ss118217635, ss167955503, ss169382663, ss171060130, ss200814588, ss207192570, ss282245659, ss286948559, ss291715542, ss825457494, ss1695778803, ss1713488030, ss3639055192, ss3639532851, ss3643068546, ss3847522789 NC_000015.8:46731563:G:A NC_000015.10:48652074:G:A (self)
66440534, 36880935, 26124035, 3846097, 16471611, 39205389, 14187799, 941063, 17208294, 34885796, 9279740, 74055714, 36880935, 8204487, ss226880703, ss236769282, ss243157799, ss537070919, ss660187655, ss832889606, ss833480436, ss991762519, ss1080106650, ss1353371995, ss1427618151, ss1577599647, ss1632947464, ss1675941497, ss1808193188, ss1935166364, ss1968100677, ss2028362207, ss2095058874, ss2156763386, ss2628675066, ss2701232398, ss2934639786, ss3013244820, ss3351104296, ss3627355637, ss3638084239, ss3652031660, ss3680385787, ss3740902934, ss3753055904, ss3787838923, ss3792851785, ss3797736262, ss3834222477, ss3840709613, ss3882868816, ss3932027995, ss3985715136, ss4017700595, ss5216086407, ss5419092292, ss5657464190, ss5828170687, ss5948862816 NC_000015.9:48944271:G:A NC_000015.10:48652074:G:A (self)
87251413, 101533, 468393183, 1258874, 103699124, 206114772, 11170774715, ss2206585042, ss3028004149, ss3650347922, ss3697846938, ss3818374239, ss3846198088, ss4990569112, ss5298361589, ss5314564468, ss5492099134, ss5599725478, ss5769862020, ss5815312759, ss5851283258, ss5875784001 NC_000015.10:48652074:G:A NC_000015.10:48652074:G:A (self)
ss10796309, ss12338790 NT_010194.15:19733882:G:A NC_000015.10:48652074:G:A (self)
ss17540429, ss21294993 NT_010194.16:19734828:G:A NC_000015.10:48652074:G:A (self)
ss3230527, ss6589019, ss43723423, ss66612651, ss67242758, ss67639574, ss70721102, ss71289498, ss75481855, ss79126976, ss84023289, ss96756239, ss106427238, ss121987941, ss134275665, ss136910832, ss153899977, ss156510402, ss159377809, ss171165095, ss173256553 NT_010194.17:19734828:G:A NC_000015.10:48652074:G:A (self)
39205389, ss3932027995 NC_000015.9:48944271:G:C NC_000015.10:48652074:G:C (self)
39205389, ss3932027995 NC_000015.9:48944271:G:T NC_000015.10:48652074:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs2289136
PMID Title Author Year Journal
21909107 Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. LeMaire SA et al. 2011 Nature genetics
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