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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.

rs2229562

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:150115690 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.400060 (105892/264690, TOPMED)
C=0.400554 (56080/140006, GnomAD)
C=0.41614 (31443/75558, ALFA) (+ 20 more)
C=0.11685 (3302/28258, 14KJPN)
C=0.11486 (1925/16760, 8.3KJPN)
C=0.3250 (2081/6404, 1000G_30x)
C=0.3189 (1597/5008, 1000G)
C=0.3308 (1482/4480, Estonian)
C=0.4331 (1669/3854, ALSPAC)
C=0.4391 (1628/3708, TWINSUK)
C=0.0949 (277/2920, KOREAN)
C=0.3212 (668/2080, HGDP_Stanford)
C=0.3263 (603/1848, HapMap)
C=0.1059 (194/1832, Korea1K)
C=0.463 (462/998, GoNL)
C=0.383 (230/600, NorthernSweden)
C=0.073 (39/534, MGP)
T=0.363 (101/278, SGDP_PRJ)
C=0.463 (100/216, Qatari)
C=0.089 (19/214, Vietnamese)
C=0.43 (30/70, Ancient Sardinia)
C=0.35 (14/40, GENOME_DK)
T=0.40 (8/20, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PDGFRB : 3 Prime UTR Variant
Publications
2 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 75558 T=0.58386 C=0.41614
European Sub 63204 T=0.57403 C=0.42597
African Sub 4498 T=0.5769 C=0.4231
African Others Sub 170 T=0.541 C=0.459
African American Sub 4328 T=0.5783 C=0.4217
Asian Sub 186 T=0.860 C=0.140
East Asian Sub 146 T=0.863 C=0.137
Other Asian Sub 40 T=0.85 C=0.15
Latin American 1 Sub 246 T=0.520 C=0.480
Latin American 2 Sub 1224 T=0.7173 C=0.2827
South Asian Sub 4952 T=0.6708 C=0.3292
Other Sub 1248 T=0.6018 C=0.3982


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=0.599940 C=0.400060
gnomAD - Genomes Global Study-wide 140006 T=0.599446 C=0.400554
gnomAD - Genomes European Sub 75852 T=0.59433 C=0.40567
gnomAD - Genomes African Sub 41914 T=0.57647 C=0.42353
gnomAD - Genomes American Sub 13642 T=0.64573 C=0.35427
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.5370 C=0.4630
gnomAD - Genomes East Asian Sub 3128 T=0.8932 C=0.1068
gnomAD - Genomes Other Sub 2150 T=0.6033 C=0.3967
Allele Frequency Aggregator Total Global 75558 T=0.58386 C=0.41614
Allele Frequency Aggregator European Sub 63204 T=0.57403 C=0.42597
Allele Frequency Aggregator South Asian Sub 4952 T=0.6708 C=0.3292
Allele Frequency Aggregator African Sub 4498 T=0.5769 C=0.4231
Allele Frequency Aggregator Other Sub 1248 T=0.6018 C=0.3982
Allele Frequency Aggregator Latin American 2 Sub 1224 T=0.7173 C=0.2827
Allele Frequency Aggregator Latin American 1 Sub 246 T=0.520 C=0.480
Allele Frequency Aggregator Asian Sub 186 T=0.860 C=0.140
14KJPN JAPANESE Study-wide 28258 T=0.88315 C=0.11685
8.3KJPN JAPANESE Study-wide 16760 T=0.88514 C=0.11486
1000Genomes_30x Global Study-wide 6404 T=0.6750 C=0.3250
1000Genomes_30x African Sub 1786 T=0.5773 C=0.4227
1000Genomes_30x Europe Sub 1266 T=0.5908 C=0.4092
1000Genomes_30x South Asian Sub 1202 T=0.6963 C=0.3037
1000Genomes_30x East Asian Sub 1170 T=0.8915 C=0.1085
1000Genomes_30x American Sub 980 T=0.678 C=0.322
1000Genomes Global Study-wide 5008 T=0.6811 C=0.3189
1000Genomes African Sub 1322 T=0.5741 C=0.4259
1000Genomes East Asian Sub 1008 T=0.8929 C=0.1071
1000Genomes Europe Sub 1006 T=0.6044 C=0.3956
1000Genomes South Asian Sub 978 T=0.693 C=0.307
1000Genomes American Sub 694 T=0.671 C=0.329
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6692 C=0.3308
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5669 C=0.4331
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5609 C=0.4391
KOREAN population from KRGDB KOREAN Study-wide 2920 T=0.9051 C=0.0949
HGDP-CEPH-db Supplement 1 Global Study-wide 2080 T=0.6788 C=0.3212
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.881 C=0.119
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 412 T=0.633 C=0.367
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.537 C=0.463
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.606 C=0.394
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.545 C=0.455
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.801 C=0.199
HGDP-CEPH-db Supplement 1 Oceania Sub 70 T=0.71 C=0.29
HapMap Global Study-wide 1848 T=0.6737 C=0.3263
HapMap American Sub 758 T=0.657 C=0.343
HapMap African Sub 666 T=0.625 C=0.375
HapMap Asian Sub 252 T=0.909 C=0.091
HapMap Europe Sub 172 T=0.593 C=0.407
Korean Genome Project KOREAN Study-wide 1832 T=0.8941 C=0.1059
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.537 C=0.463
Northern Sweden ACPOP Study-wide 600 T=0.617 C=0.383
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.927 C=0.073
SGDP_PRJ Global Study-wide 278 T=0.363 C=0.637
Qatari Global Study-wide 216 T=0.537 C=0.463
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.911 C=0.089
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 70 T=0.57 C=0.43
The Danish reference pan genome Danish Study-wide 40 T=0.65 C=0.35
Siberian Global Study-wide 20 T=0.40 C=0.60
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 5 NC_000005.10:g.150115690T>C
GRCh37.p13 chr 5 NC_000005.9:g.149495253T>C
CSF1R RefSeqGene NG_012303.2:g.2683A>G
PDGFRB RefSeqGene NG_023367.1:g.45170A>G
Gene: PDGFRB, platelet derived growth factor receptor beta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PDGFRB transcript variant 1 NM_002609.4:c.*73= N/A 3 Prime UTR Variant
PDGFRB transcript variant 2 NM_001355016.2:c.*73= N/A 3 Prime UTR Variant
PDGFRB transcript variant 3 NM_001355017.2:c.*73= N/A 3 Prime UTR Variant
PDGFRB transcript variant 4 NR_149150.2:n. N/A Genic Downstream 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.

Allele: C (allele ID: 1211556 )
ClinVar Accession Disease Names Clinical Significance
RCV001597348.3 not provided Benign
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= C
GRCh38.p14 chr 5 NC_000005.10:g.150115690= NC_000005.10:g.150115690T>C
GRCh37.p13 chr 5 NC_000005.9:g.149495253= NC_000005.9:g.149495253T>C
CSF1R RefSeqGene NG_012303.2:g.2683= NG_012303.2:g.2683A>G
PDGFRB RefSeqGene NG_023367.1:g.45170= NG_023367.1:g.45170A>G
PDGFRB transcript variant 1 NM_002609.4:c.*73= NM_002609.4:c.*73A>G
PDGFRB transcript variant 1 NM_002609.3:c.*73= NM_002609.3:c.*73A>G
PDGFRB transcript variant 3 NM_001355017.2:c.*73= NM_001355017.2:c.*73A>G
PDGFRB transcript variant 3 NM_001355017.1:c.*73= NM_001355017.1:c.*73A>G
PDGFRB transcript variant 2 NM_001355016.2:c.*73= NM_001355016.2:c.*73A>G
PDGFRB transcript variant 2 NM_001355016.1:c.*73= NM_001355016.1:c.*73A>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#.

107 SubSNP, 23 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WICVAR ss3176599 Aug 15, 2001 (98)
2 ILLUMINA ss66806238 Nov 29, 2006 (127)
3 ILLUMINA ss67235559 Nov 29, 2006 (127)
4 ILLUMINA ss67631663 Nov 29, 2006 (127)
5 PERLEGEN ss68953555 May 16, 2007 (127)
6 ILLUMINA ss70713897 May 24, 2008 (130)
7 ILLUMINA ss71281586 May 16, 2007 (127)
8 ILLUMINA ss75824680 Dec 07, 2007 (129)
9 CGM_KYOTO ss76865674 Dec 07, 2007 (129)
10 ILLUMINA ss79121722 Dec 15, 2007 (130)
11 HGSV ss81177352 Dec 15, 2007 (130)
12 KRIBB_YJKIM ss84001841 Dec 15, 2007 (130)
13 CNG ss95213062 Mar 25, 2008 (129)
14 HUMANGENOME_JCVI ss98775856 Feb 05, 2009 (130)
15 ILLUMINA-UK ss116856805 Feb 14, 2009 (130)
16 ILLUMINA ss121957183 Dec 01, 2009 (131)
17 ENSEMBL ss143062434 Dec 01, 2009 (131)
18 ILLUMINA ss153888160 Dec 01, 2009 (131)
19 ILLUMINA ss159101205 Dec 01, 2009 (131)
20 ILLUMINA ss159370087 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss162763416 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss167221106 Jul 04, 2010 (132)
23 ILLUMINA ss171104469 Jul 04, 2010 (132)
24 ILLUMINA ss173193423 Jul 04, 2010 (132)
25 BUSHMAN ss201017992 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss207230826 Jul 04, 2010 (132)
27 1000GENOMES ss210623894 Jul 14, 2010 (132)
28 1000GENOMES ss222033743 Jul 14, 2010 (132)
29 1000GENOMES ss233195991 Jul 14, 2010 (132)
30 1000GENOMES ss240309176 Jul 15, 2010 (132)
31 ILLUMINA ss244287986 Jul 04, 2010 (132)
32 BL ss253882406 May 09, 2011 (134)
33 GMI ss285282223 Apr 25, 2013 (138)
34 PJP ss293492156 May 09, 2011 (134)
35 ILLUMINA ss479339802 May 04, 2012 (137)
36 ILLUMINA ss484959828 May 04, 2012 (137)
37 ILLUMINA ss532906976 Sep 08, 2015 (146)
38 TISHKOFF ss558791417 Apr 25, 2013 (138)
39 SSMP ss652695316 Apr 25, 2013 (138)
40 ILLUMINA ss780957015 Aug 21, 2014 (142)
41 ILLUMINA ss825452240 Apr 01, 2015 (144)
42 ILLUMINA ss832881915 Aug 21, 2014 (142)
43 ILLUMINA ss833472745 Aug 21, 2014 (142)
44 EVA-GONL ss982253816 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1073137431 Aug 21, 2014 (142)
46 1000GENOMES ss1317729584 Aug 21, 2014 (142)
47 EVA_GENOME_DK ss1581399960 Apr 01, 2015 (144)
48 EVA_DECODE ss1591786593 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1614287946 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1657281979 Apr 01, 2015 (144)
51 EVA_MGP ss1711102450 Apr 01, 2015 (144)
52 EVA_SVP ss1712809989 Apr 01, 2015 (144)
53 HAMMER_LAB ss1804136321 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1925507750 Feb 12, 2016 (147)
55 JJLAB ss2023361703 Sep 14, 2016 (149)
56 USC_VALOUEV ss2151520237 Dec 20, 2016 (150)
57 HUMAN_LONGEVITY ss2279232185 Dec 20, 2016 (150)
58 ILLUMINA ss2634356057 Nov 08, 2017 (151)
59 GRF ss2707089966 Nov 08, 2017 (151)
60 GNOMAD ss2832248776 Nov 08, 2017 (151)
61 SWEGEN ss2997997018 Nov 08, 2017 (151)
62 BIOINF_KMB_FNS_UNIBA ss3025462676 Nov 08, 2017 (151)
63 CSHL ss3346682734 Nov 08, 2017 (151)
64 ILLUMINA ss3625886695 Oct 12, 2018 (152)
65 ILLUMINA ss3629370432 Oct 12, 2018 (152)
66 ILLUMINA ss3638588291 Oct 12, 2018 (152)
67 ILLUMINA ss3639296401 Oct 12, 2018 (152)
68 ILLUMINA ss3639672542 Oct 12, 2018 (152)
69 ILLUMINA ss3642452360 Oct 12, 2018 (152)
70 ILLUMINA ss3643531700 Oct 12, 2018 (152)
71 OMUKHERJEE_ADBS ss3646326499 Oct 12, 2018 (152)
72 URBANLAB ss3648196567 Oct 12, 2018 (152)
73 EGCUT_WGS ss3665917423 Jul 13, 2019 (153)
74 EVA_DECODE ss3715948628 Jul 13, 2019 (153)
75 ACPOP ss3732923996 Jul 13, 2019 (153)
76 EVA ss3764218839 Jul 13, 2019 (153)
77 KHV_HUMAN_GENOMES ss3807387342 Jul 13, 2019 (153)
78 EVA ss3825683399 Apr 26, 2020 (154)
79 EVA ss3829565936 Apr 26, 2020 (154)
80 EVA ss3838256802 Apr 26, 2020 (154)
81 EVA ss3843699896 Apr 26, 2020 (154)
82 HGDP ss3847811118 Apr 26, 2020 (154)
83 SGDP_PRJ ss3863238642 Apr 26, 2020 (154)
84 KRGDB ss3909915574 Apr 26, 2020 (154)
85 KOGIC ss3957889858 Apr 26, 2020 (154)
86 FSA-LAB ss3984320150 Apr 26, 2021 (155)
87 FSA-LAB ss3984320151 Apr 26, 2021 (155)
88 EVA ss3985178110 Apr 26, 2021 (155)
89 EVA ss4017238159 Apr 26, 2021 (155)
90 TOPMED ss4683209596 Apr 26, 2021 (155)
91 TOMMO_GENOMICS ss5174723758 Apr 26, 2021 (155)
92 1000G_HIGH_COVERAGE ss5266291840 Oct 13, 2022 (156)
93 EVA ss5315095154 Oct 13, 2022 (156)
94 EVA ss5361787828 Oct 13, 2022 (156)
95 HUGCELL_USP ss5464210933 Oct 13, 2022 (156)
96 1000G_HIGH_COVERAGE ss5551171274 Oct 13, 2022 (156)
97 EVA ss5623933710 Oct 13, 2022 (156)
98 SANFORD_IMAGENETICS ss5639134700 Oct 13, 2022 (156)
99 TOMMO_GENOMICS ss5711972051 Oct 13, 2022 (156)
100 EVA ss5800054643 Oct 13, 2022 (156)
101 EVA ss5800124979 Oct 13, 2022 (156)
102 YY_MCH ss5806873746 Oct 13, 2022 (156)
103 EVA ss5835814529 Oct 13, 2022 (156)
104 EVA ss5855068298 Oct 13, 2022 (156)
105 EVA ss5896843540 Oct 13, 2022 (156)
106 EVA ss5967615045 Oct 13, 2022 (156)
107 EVA ss5980323080 Oct 13, 2022 (156)
108 1000Genomes NC_000005.9 - 149495253 Oct 12, 2018 (152)
109 1000Genomes_30x NC_000005.10 - 150115690 Oct 13, 2022 (156)
110 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 149495253 Oct 12, 2018 (152)
111 Genetic variation in the Estonian population NC_000005.9 - 149495253 Oct 12, 2018 (152)
112 The Danish reference pan genome NC_000005.9 - 149495253 Apr 26, 2020 (154)
113 gnomAD - Genomes NC_000005.10 - 150115690 Apr 26, 2021 (155)
114 Genome of the Netherlands Release 5 NC_000005.9 - 149495253 Apr 26, 2020 (154)
115 HGDP-CEPH-db Supplement 1 NC_000005.8 - 149475446 Apr 26, 2020 (154)
116 HapMap NC_000005.10 - 150115690 Apr 26, 2020 (154)
117 KOREAN population from KRGDB NC_000005.9 - 149495253 Apr 26, 2020 (154)
118 Korean Genome Project NC_000005.10 - 150115690 Apr 26, 2020 (154)
119 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 149495253 Apr 26, 2020 (154)
120 Northern Sweden NC_000005.9 - 149495253 Jul 13, 2019 (153)
121 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 149495253 Apr 26, 2021 (155)
122 Qatari NC_000005.9 - 149495253 Apr 26, 2020 (154)
123 SGDP_PRJ NC_000005.9 - 149495253 Apr 26, 2020 (154)
124 Siberian NC_000005.9 - 149495253 Apr 26, 2020 (154)
125 8.3KJPN NC_000005.9 - 149495253 Apr 26, 2021 (155)
126 14KJPN NC_000005.10 - 150115690 Oct 13, 2022 (156)
127 TopMed NC_000005.10 - 150115690 Apr 26, 2021 (155)
128 UK 10K study - Twins NC_000005.9 - 149495253 Oct 12, 2018 (152)
129 A Vietnamese Genetic Variation Database NC_000005.9 - 149495253 Jul 13, 2019 (153)
130 ALFA NC_000005.10 - 150115690 Apr 26, 2021 (155)
131 ClinVar RCV001597348.3 Oct 13, 2022 (156)
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)
rs58663565 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
489010, ss81177352, ss116856805, ss162763416, ss167221106, ss201017992, ss207230826, ss210623894, ss244287986, ss253882406, ss285282223, ss293492156, ss484959828, ss825452240, ss1591786593, ss1712809989, ss3639296401, ss3639672542, ss3643531700, ss3847811118 NC_000005.8:149475445:T:C NC_000005.10:150115689:T:C (self)
29426307, 16373437, 11655671, 7564899, 7269407, 17092968, 218210, 6208861, 404037, 7549680, 15255622, 4036591, 32693065, 16373437, 3628742, ss222033743, ss233195991, ss240309176, ss479339802, ss532906976, ss558791417, ss652695316, ss780957015, ss832881915, ss833472745, ss982253816, ss1073137431, ss1317729584, ss1581399960, ss1614287946, ss1657281979, ss1711102450, ss1804136321, ss1925507750, ss2023361703, ss2151520237, ss2634356057, ss2707089966, ss2832248776, ss2997997018, ss3346682734, ss3625886695, ss3629370432, ss3638588291, ss3642452360, ss3646326499, ss3665917423, ss3732923996, ss3764218839, ss3825683399, ss3829565936, ss3838256802, ss3863238642, ss3909915574, ss3984320150, ss3984320151, ss3985178110, ss4017238159, ss5174723758, ss5315095154, ss5361787828, ss5623933710, ss5639134700, ss5800054643, ss5800124979, ss5835814529, ss5967615045, ss5980323080 NC_000005.9:149495252:T:C NC_000005.10:150115689:T:C (self)
RCV001597348.3, 38697209, 208144024, 2994280, 14267859, 45809155, 520587153, 10841184467, ss2279232185, ss3025462676, ss3648196567, ss3715948628, ss3807387342, ss3843699896, ss3957889858, ss4683209596, ss5266291840, ss5464210933, ss5551171274, ss5711972051, ss5806873746, ss5855068298, ss5896843540 NC_000005.10:150115689:T:C NC_000005.10:150115689:T:C (self)
ss3176599, ss66806238, ss67235559, ss67631663, ss68953555, ss70713897, ss71281586, ss75824680, ss76865674, ss79121722, ss84001841, ss95213062, ss98775856, ss121957183, ss143062434, ss153888160, ss159101205, ss159370087, ss171104469, ss173193423 NT_029289.11:10658179:T:C NC_000005.10:150115689:T:C (self)
Help

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

2 citations for rs2229562
PMID Title Author Year Journal
25069475 Genes involved in pericyte-driven tumor maturation predict treatment benefit of first-line FOLFIRI plus bevacizumab in patients with metastatic colorectal cancer. Volz NB et al. 2015 The pharmacogenomics journal
26830973 The influence of genetic variants of sorafenib on clinical outcomes and toxic effects in patients with advanced renal cell carcinoma. Qin C et al. 2016 Scientific reports
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