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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.

rs2228230

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:54285873 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.150879 (51572/341810, ALFA)
T=0.215010 (56911/264690, TOPMED)
T=0.202926 (28425/140076, GnomAD) (+ 22 more)
T=0.26057 (20507/78702, PAGE_STUDY)
T=0.14278 (2393/16760, 8.3KJPN)
T=0.19829 (2579/13006, GO-ESP)
T=0.2404 (1204/5008, 1000G)
T=0.1127 (505/4480, Estonian)
T=0.1422 (548/3854, ALSPAC)
T=0.1478 (548/3708, TWINSUK)
T=0.1225 (358/2922, KOREAN)
T=0.1689 (352/2084, HGDP_Stanford)
T=0.2230 (422/1892, HapMap)
T=0.1234 (226/1832, Korea1K)
T=0.162 (162/998, GoNL)
T=0.151 (119/786, PRJEB37584)
T=0.268 (168/626, Chileans)
T=0.172 (103/600, NorthernSweden)
T=0.150 (80/534, MGP)
T=0.109 (33/304, FINRISK)
T=0.106 (23/216, Qatari)
C=0.407 (74/182, SGDP_PRJ)
T=0.25 (20/80, Ancient Sardinia)
T=0.07 (3/40, GENOME_DK)
C=0.43 (6/14, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PDGFRA : Synonymous Variant
Publications
9 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 4 NC_000004.12:g.54285873C>A
GRCh38.p13 chr 4 NC_000004.12:g.54285873C>T
GRCh37.p13 chr 4 NC_000004.11:g.55152040C>A
GRCh37.p13 chr 4 NC_000004.11:g.55152040C>T
PDGFRA RefSeqGene (LRG_309) NG_009250.1:g.61777C>A
PDGFRA RefSeqGene (LRG_309) NG_009250.1:g.61777C>T
Gene: PDGFRA, platelet derived growth factor receptor alpha (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PDGFRA transcript variant 2 NM_001347827.2:c. N/A Genic Downstream Transcript Variant
PDGFRA transcript variant 1 NM_006206.6:c.2472C>A V [GTC] > V [GTA] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_006197.1:p.Val824= V (Val) > V (Val) Synonymous Variant
PDGFRA transcript variant 1 NM_006206.6:c.2472C>T V [GTC] > V [GTT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_006197.1:p.Val824= V (Val) > V (Val) Synonymous Variant
PDGFRA transcript variant 5 NM_001347829.2:c.2472C>A V [GTC] > V [GTA] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_001334758.1:p.Val824= V (Val) > V (Val) Synonymous Variant
PDGFRA transcript variant 5 NM_001347829.2:c.2472C>T V [GTC] > V [GTT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_001334758.1:p.Val824= V (Val) > V (Val) Synonymous Variant
PDGFRA transcript variant 3 NM_001347828.2:c.2547C>A V [GTC] > V [GTA] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 3 NP_001334757.1:p.Val849= V (Val) > V (Val) Synonymous Variant
PDGFRA transcript variant 3 NM_001347828.2:c.2547C>T V [GTC] > V [GTT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 3 NP_001334757.1:p.Val849= V (Val) > V (Val) Synonymous Variant
PDGFRA transcript variant 4 NM_001347830.2:c.2511C>A V [GTC] > V [GTA] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 4 NP_001334759.1:p.Val837= V (Val) > V (Val) Synonymous Variant
PDGFRA transcript variant 4 NM_001347830.2:c.2511C>T V [GTC] > V [GTT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 4 NP_001334759.1:p.Val837= V (Val) > V (Val) Synonymous Variant
PDGFRA transcript variant X2 XM_006714041.3:c. N/A Genic Downstream Transcript Variant
PDGFRA transcript variant X3 XM_017008281.1:c. N/A Genic Downstream Transcript Variant
PDGFRA transcript variant X1 XM_005265743.1:c.2472C>A V [GTC] > V [GTA] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X1 XP_005265800.1:p.Val824= V (Val) > V (Val) Synonymous Variant
PDGFRA transcript variant X1 XM_005265743.1:c.2472C>T V [GTC] > V [GTT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X1 XP_005265800.1:p.Val824= V (Val) > V (Val) Synonymous 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: T (allele ID: 251497 )
ClinVar Accession Disease Names Clinical Significance
RCV000247800.1 not specified Benign
RCV000275201.2 Idiopathic hypereosinophilic syndrome Benign
RCV000369832.2 Gastrointestinal stromal tumor Benign
RCV001015670.1 Hereditary cancer-predisposing syndrome Benign

ALFA Allele Frequency (New)
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 341810 C=0.849121 T=0.150879
European Sub 295778 C=0.860493 T=0.139507
African Sub 9688 C=0.6845 T=0.3155
African Others Sub 338 C=0.595 T=0.405
African American Sub 9350 C=0.6877 T=0.3123
Asian Sub 4046 C=0.8693 T=0.1307
East Asian Sub 3238 C=0.8660 T=0.1340
Other Asian Sub 808 C=0.882 T=0.118
Latin American 1 Sub 1632 C=0.8002 T=0.1998
Latin American 2 Sub 9404 C=0.7062 T=0.2938
South Asian Sub 5236 C=0.8002 T=0.1998
Other Sub 16026 C=0.83851 T=0.16149


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=0.784990 T=0.215010
gnomAD - Genomes Global Study-wide 140076 C=0.797074 T=0.202926
gnomAD - Genomes European Sub 75900 C=0.85926 T=0.14074
gnomAD - Genomes African Sub 41922 C=0.67738 T=0.32262
gnomAD - Genomes American Sub 13652 C=0.76590 T=0.23410
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9314 T=0.0686
gnomAD - Genomes East Asian Sub 3130 C=0.8658 T=0.1342
gnomAD - Genomes Other Sub 2150 C=0.8260 T=0.1740
The PAGE Study Global Study-wide 78702 C=0.73943 T=0.26057
The PAGE Study AfricanAmerican Sub 32516 C=0.68492 T=0.31508
The PAGE Study Mexican Sub 10810 C=0.68353 T=0.31647
The PAGE Study Asian Sub 8318 C=0.8516 T=0.1484
The PAGE Study PuertoRican Sub 7918 C=0.7826 T=0.2174
The PAGE Study NativeHawaiian Sub 4534 C=0.8908 T=0.1092
The PAGE Study Cuban Sub 4230 C=0.8180 T=0.1820
The PAGE Study Dominican Sub 3828 C=0.7419 T=0.2581
The PAGE Study CentralAmerican Sub 2450 C=0.7384 T=0.2616
The PAGE Study SouthAmerican Sub 1982 C=0.7427 T=0.2573
The PAGE Study NativeAmerican Sub 1260 C=0.7778 T=0.2222
The PAGE Study SouthAsian Sub 856 C=0.764 T=0.236
8.3KJPN JAPANESE Study-wide 16760 C=0.85722 T=0.14278
GO Exome Sequencing Project Global Study-wide 13006 C=0.80171 T=0.19829
GO Exome Sequencing Project European American Sub 8600 C=0.8607 T=0.1393
GO Exome Sequencing Project African American Sub 4406 C=0.6866 T=0.3134
1000Genomes Global Study-wide 5008 C=0.7596 T=0.2404
1000Genomes African Sub 1322 C=0.6551 T=0.3449
1000Genomes East Asian Sub 1008 C=0.8274 T=0.1726
1000Genomes Europe Sub 1006 C=0.8549 T=0.1451
1000Genomes South Asian Sub 978 C=0.759 T=0.241
1000Genomes American Sub 694 C=0.723 T=0.277
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8873 T=0.1127
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8578 T=0.1422
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8522 T=0.1478
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.8775 T=0.1225
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8311 T=0.1689
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.855 T=0.145
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.831 T=0.169
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.886 T=0.114
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.869 T=0.131
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.694 T=0.306
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.736 T=0.264
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.99 T=0.01
HapMap Global Study-wide 1892 C=0.7770 T=0.2230
HapMap American Sub 770 C=0.801 T=0.199
HapMap African Sub 692 C=0.715 T=0.285
HapMap Asian Sub 254 C=0.799 T=0.201
HapMap Europe Sub 176 C=0.881 T=0.119
Korean Genome Project KOREAN Study-wide 1832 C=0.8766 T=0.1234
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.838 T=0.162
CNV burdens in cranial meningiomas Global Study-wide 786 C=0.849 T=0.151
CNV burdens in cranial meningiomas CRM Sub 786 C=0.849 T=0.151
Chileans Chilean Study-wide 626 C=0.732 T=0.268
Northern Sweden ACPOP Study-wide 600 C=0.828 T=0.172
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.850 T=0.150
FINRISK Finnish from FINRISK project Study-wide 304 C=0.891 T=0.109
Qatari Global Study-wide 216 C=0.894 T=0.106
SGDP_PRJ Global Study-wide 182 C=0.407 T=0.593
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 C=0.75 T=0.25
The Danish reference pan genome Danish Study-wide 40 C=0.93 T=0.07
Siberian Global Study-wide 14 C=0.43 T=0.57
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.p13 chr 4 NC_000004.12:g.54285873= NC_000004.12:g.54285873C>A NC_000004.12:g.54285873C>T
GRCh37.p13 chr 4 NC_000004.11:g.55152040= NC_000004.11:g.55152040C>A NC_000004.11:g.55152040C>T
PDGFRA RefSeqGene (LRG_309) NG_009250.1:g.61777= NG_009250.1:g.61777C>A NG_009250.1:g.61777C>T
PDGFRA transcript variant 1 NM_006206.6:c.2472= NM_006206.6:c.2472C>A NM_006206.6:c.2472C>T
PDGFRA transcript variant 1 NM_006206.5:c.2472= NM_006206.5:c.2472C>A NM_006206.5:c.2472C>T
PDGFRA transcript NM_006206.4:c.2472= NM_006206.4:c.2472C>A NM_006206.4:c.2472C>T
PDGFRA transcript variant 4 NM_001347830.2:c.2511= NM_001347830.2:c.2511C>A NM_001347830.2:c.2511C>T
PDGFRA transcript variant 4 NM_001347830.1:c.2511= NM_001347830.1:c.2511C>A NM_001347830.1:c.2511C>T
PDGFRA transcript variant 5 NM_001347829.2:c.2472= NM_001347829.2:c.2472C>A NM_001347829.2:c.2472C>T
PDGFRA transcript variant 5 NM_001347829.1:c.2472= NM_001347829.1:c.2472C>A NM_001347829.1:c.2472C>T
PDGFRA transcript variant 3 NM_001347828.2:c.2547= NM_001347828.2:c.2547C>A NM_001347828.2:c.2547C>T
PDGFRA transcript variant 3 NM_001347828.1:c.2547= NM_001347828.1:c.2547C>A NM_001347828.1:c.2547C>T
PDGFRA transcript variant X1 XM_005265743.1:c.2472= XM_005265743.1:c.2472C>A XM_005265743.1:c.2472C>T
platelet-derived growth factor receptor alpha isoform 1 precursor NP_006197.1:p.Val824= NP_006197.1:p.Val824= NP_006197.1:p.Val824=
platelet-derived growth factor receptor alpha isoform 4 NP_001334759.1:p.Val837= NP_001334759.1:p.Val837= NP_001334759.1:p.Val837=
platelet-derived growth factor receptor alpha isoform 1 precursor NP_001334758.1:p.Val824= NP_001334758.1:p.Val824= NP_001334758.1:p.Val824=
platelet-derived growth factor receptor alpha isoform 3 NP_001334757.1:p.Val849= NP_001334757.1:p.Val849= NP_001334757.1:p.Val849=
platelet-derived growth factor receptor alpha isoform X1 XP_005265800.1:p.Val824= XP_005265800.1:p.Val824= XP_005265800.1:p.Val824=
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#.

139 SubSNP, 29 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3233926 Sep 28, 2001 (102)
2 WI_SSAHASNP ss13861808 Dec 05, 2003 (126)
3 PERLEGEN ss23712609 Sep 20, 2004 (126)
4 APPLERA_GI ss48420041 Mar 10, 2006 (126)
5 AFFY ss66086879 Nov 29, 2006 (127)
6 ILLUMINA ss67235491 Nov 29, 2006 (127)
7 ILLUMINA ss67631585 Nov 29, 2006 (127)
8 ILLUMINA ss68199623 Dec 12, 2006 (127)
9 ILLUMINA ss70713833 May 24, 2008 (130)
10 ILLUMINA ss71281513 May 16, 2007 (127)
11 CANCER-GENOME ss74802224 Dec 06, 2007 (129)
12 ILLUMINA ss75776703 Dec 06, 2007 (129)
13 AFFY ss76035546 Dec 06, 2007 (129)
14 CGM_KYOTO ss76866479 Dec 06, 2007 (129)
15 HGSV ss80454775 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss84001663 Dec 14, 2007 (130)
17 HGSV ss84754409 Dec 14, 2007 (130)
18 CNG ss95212908 Mar 25, 2008 (129)
19 1000GENOMES ss112243441 Jan 25, 2009 (130)
20 1000GENOMES ss113064646 Jan 25, 2009 (130)
21 ILLUMINA-UK ss116989939 Feb 14, 2009 (130)
22 ILLUMINA ss153887922 Dec 01, 2009 (131)
23 ILLUMINA ss159370011 Dec 01, 2009 (131)
24 SEATTLESEQ ss159707628 Dec 01, 2009 (131)
25 ILLUMINA ss160517228 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss163439882 Jul 04, 2010 (132)
27 AFFY ss170681420 Jul 04, 2010 (132)
28 ILLUMINA ss173192334 Jul 04, 2010 (132)
29 BUSHMAN ss198502471 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss206559874 Jul 04, 2010 (132)
31 1000GENOMES ss220915526 Jul 14, 2010 (132)
32 1000GENOMES ss232385318 Jul 14, 2010 (132)
33 1000GENOMES ss239680099 Jul 15, 2010 (132)
34 ILLUMINA ss244287909 Jul 04, 2010 (132)
35 GMI ss277711351 May 04, 2012 (137)
36 GMI ss284905964 Apr 25, 2013 (138)
37 PJP ss293069183 May 09, 2011 (134)
38 NHLBI-ESP ss342163459 May 09, 2011 (134)
39 ILLUMINA ss480471702 May 04, 2012 (137)
40 ILLUMINA ss480486037 May 04, 2012 (137)
41 ILLUMINA ss481283205 Sep 08, 2015 (146)
42 ILLUMINA ss485033326 May 04, 2012 (137)
43 1000GENOMES ss490887534 May 04, 2012 (137)
44 CLINSEQ_SNP ss491854263 May 04, 2012 (137)
45 ILLUMINA ss537057449 Sep 08, 2015 (146)
46 TISHKOFF ss557504667 Apr 25, 2013 (138)
47 SSMP ss651300954 Apr 25, 2013 (138)
48 ILLUMINA ss778486276 Sep 08, 2015 (146)
49 ILLUMINA ss782962909 Sep 08, 2015 (146)
50 ILLUMINA ss783924960 Sep 08, 2015 (146)
51 ILLUMINA ss832219147 Sep 08, 2015 (146)
52 ILLUMINA ss832881839 Jul 13, 2019 (153)
53 ILLUMINA ss833942215 Sep 08, 2015 (146)
54 JMKIDD_LAB ss974452528 Aug 21, 2014 (142)
55 EVA-GONL ss980094794 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1067461224 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1071522049 Aug 21, 2014 (142)
58 1000GENOMES ss1309667450 Aug 21, 2014 (142)
59 DDI ss1429877039 Apr 01, 2015 (144)
60 EVA_GENOME_DK ss1580547783 Apr 01, 2015 (144)
61 EVA_FINRISK ss1584034275 Apr 01, 2015 (144)
62 EVA_DECODE ss1589592230 Apr 01, 2015 (144)
63 EVA_UK10K_ALSPAC ss1610051049 Apr 01, 2015 (144)
64 EVA_UK10K_TWINSUK ss1653045082 Apr 01, 2015 (144)
65 EVA_EXAC ss1687494488 Apr 01, 2015 (144)
66 EVA_EXAC ss1687494489 Apr 01, 2015 (144)
67 EVA_MGP ss1711059712 Apr 01, 2015 (144)
68 EVA_SVP ss1712671997 Apr 01, 2015 (144)
69 ILLUMINA ss1752525287 Sep 08, 2015 (146)
70 HAMMER_LAB ss1801422275 Sep 08, 2015 (146)
71 WEILL_CORNELL_DGM ss1923333994 Feb 12, 2016 (147)
72 ILLUMINA ss1946116050 Feb 12, 2016 (147)
73 ILLUMINA ss1958682895 Feb 12, 2016 (147)
74 GENOMED ss1966658488 Feb 12, 2016 (147)
75 JJLAB ss2022250499 Sep 14, 2016 (149)
76 USC_VALOUEV ss2150375760 Dec 20, 2016 (150)
77 HUMAN_LONGEVITY ss2262810631 Dec 20, 2016 (150)
78 TOPMED ss2430460438 Dec 20, 2016 (150)
79 SYSTEMSBIOZJU ss2625624573 Nov 08, 2017 (151)
80 ILLUMINA ss2634117838 Nov 08, 2017 (151)
81 GRF ss2705840727 Nov 08, 2017 (151)
82 ILLUMINA ss2711004893 Nov 08, 2017 (151)
83 GNOMAD ss2734511462 Nov 08, 2017 (151)
84 GNOMAD ss2747238627 Nov 08, 2017 (151)
85 GNOMAD ss2809119116 Nov 08, 2017 (151)
86 SWEGEN ss2994673273 Nov 08, 2017 (151)
87 ILLUMINA ss3022372835 Nov 08, 2017 (151)
88 BIOINF_KMB_FNS_UNIBA ss3024896305 Nov 08, 2017 (151)
89 CSHL ss3345705722 Nov 08, 2017 (151)
90 TOPMED ss3428649559 Nov 08, 2017 (151)
91 ILLUMINA ss3625843519 Oct 12, 2018 (152)
92 ILLUMINA ss3628962835 Oct 12, 2018 (152)
93 ILLUMINA ss3632054677 Oct 12, 2018 (152)
94 ILLUMINA ss3633334541 Oct 12, 2018 (152)
95 ILLUMINA ss3634053508 Oct 12, 2018 (152)
96 ILLUMINA ss3634951840 Oct 12, 2018 (152)
97 ILLUMINA ss3635736451 Oct 12, 2018 (152)
98 ILLUMINA ss3636654713 Oct 12, 2018 (152)
99 ILLUMINA ss3637488965 Oct 12, 2018 (152)
100 ILLUMINA ss3638486090 Oct 12, 2018 (152)
101 ILLUMINA ss3639246032 Oct 12, 2018 (152)
102 ILLUMINA ss3639921940 Oct 12, 2018 (152)
103 ILLUMINA ss3640659136 Oct 12, 2018 (152)
104 ILLUMINA ss3643437530 Oct 12, 2018 (152)
105 ILLUMINA ss3643968192 Oct 12, 2018 (152)
106 ILLUMINA ss3644848822 Oct 12, 2018 (152)
107 OMUKHERJEE_ADBS ss3646307557 Oct 12, 2018 (152)
108 ILLUMINA ss3652857452 Oct 12, 2018 (152)
109 EGCUT_WGS ss3662557904 Jul 13, 2019 (153)
110 EVA_DECODE ss3712019386 Jul 13, 2019 (153)
111 ILLUMINA ss3726132601 Jul 13, 2019 (153)
112 ACPOP ss3731132779 Jul 13, 2019 (153)
113 ILLUMINA ss3744234327 Jul 13, 2019 (153)
114 ILLUMINA ss3745252102 Jul 13, 2019 (153)
115 EVA ss3761776583 Jul 13, 2019 (153)
116 PAGE_CC ss3771123921 Jul 13, 2019 (153)
117 ILLUMINA ss3772746759 Jul 13, 2019 (153)
118 KHV_HUMAN_GENOMES ss3804911927 Jul 13, 2019 (153)
119 EVA ss3824016196 Apr 26, 2020 (154)
120 EVA ss3825657224 Apr 26, 2020 (154)
121 EVA ss3828529682 Apr 26, 2020 (154)
122 EVA ss3837702061 Apr 26, 2020 (154)
123 EVA ss3843138112 Apr 26, 2020 (154)
124 HGDP ss3847750137 Apr 26, 2020 (154)
125 SGDP_PRJ ss3858910557 Apr 26, 2020 (154)
126 KRGDB ss3905147512 Apr 26, 2020 (154)
127 KOGIC ss3954156482 Apr 26, 2020 (154)
128 FSA-LAB ss3984283386 Apr 26, 2021 (155)
129 FSA-LAB ss3984283387 Apr 26, 2021 (155)
130 EVA ss3984527908 Apr 26, 2021 (155)
131 EVA ss3985069277 Apr 26, 2021 (155)
132 EVA ss3986027538 Apr 26, 2021 (155)
133 EVA ss3986279940 Apr 26, 2021 (155)
134 TOPMED ss4613300962 Apr 26, 2021 (155)
135 TOMMO_GENOMICS ss5165642954 Apr 26, 2021 (155)
136 CPQ_GEN_INCA ss5236854799 Apr 26, 2021 (155)
137 CPQ_GEN_INCA ss5236859998 Apr 26, 2021 (155)
138 CPQ_GEN_INCA ss5236859999 Apr 26, 2021 (155)
139 EVA ss5237006363 Apr 26, 2021 (155)
140 1000Genomes NC_000004.11 - 55152040 Oct 12, 2018 (152)
141 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 55152040 Oct 12, 2018 (152)
142 Chileans NC_000004.11 - 55152040 Apr 26, 2020 (154)
143 Genetic variation in the Estonian population NC_000004.11 - 55152040 Oct 12, 2018 (152)
144 ExAC

Submission ignored due to conflicting rows:
Row 7458711 (NC_000004.11:55152039:C:C 99292/121386, NC_000004.11:55152039:C:T 22094/121386)
Row 7458712 (NC_000004.11:55152039:C:C 121385/121386, NC_000004.11:55152039:C:A 1/121386)

- Oct 12, 2018 (152)
145 ExAC

Submission ignored due to conflicting rows:
Row 7458711 (NC_000004.11:55152039:C:C 99292/121386, NC_000004.11:55152039:C:T 22094/121386)
Row 7458712 (NC_000004.11:55152039:C:C 121385/121386, NC_000004.11:55152039:C:A 1/121386)

- Oct 12, 2018 (152)
146 FINRISK NC_000004.11 - 55152040 Apr 26, 2020 (154)
147 The Danish reference pan genome NC_000004.11 - 55152040 Apr 26, 2020 (154)
148 gnomAD - Genomes NC_000004.12 - 54285873 Apr 26, 2021 (155)
149 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3614491 (NC_000004.11:55152039:C:C 251357/251358, NC_000004.11:55152039:C:A 1/251358)
Row 3614492 (NC_000004.11:55152039:C:C 205323/251358, NC_000004.11:55152039:C:T 46035/251358)

- Jul 13, 2019 (153)
150 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3614491 (NC_000004.11:55152039:C:C 251357/251358, NC_000004.11:55152039:C:A 1/251358)
Row 3614492 (NC_000004.11:55152039:C:C 205323/251358, NC_000004.11:55152039:C:T 46035/251358)

- Jul 13, 2019 (153)
151 GO Exome Sequencing Project NC_000004.11 - 55152040 Oct 12, 2018 (152)
152 Genome of the Netherlands Release 5 NC_000004.11 - 55152040 Apr 26, 2020 (154)
153 HGDP-CEPH-db Supplement 1 NC_000004.10 - 54846797 Apr 26, 2020 (154)
154 HapMap NC_000004.12 - 54285873 Apr 26, 2020 (154)
155 KOREAN population from KRGDB NC_000004.11 - 55152040 Apr 26, 2020 (154)
156 Korean Genome Project NC_000004.12 - 54285873 Apr 26, 2020 (154)
157 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 55152040 Apr 26, 2020 (154)
158 Northern Sweden NC_000004.11 - 55152040 Jul 13, 2019 (153)
159 The PAGE Study NC_000004.12 - 54285873 Jul 13, 2019 (153)
160 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 55152040 Apr 26, 2021 (155)
161 CNV burdens in cranial meningiomas NC_000004.11 - 55152040 Apr 26, 2021 (155)
162 Qatari NC_000004.11 - 55152040 Apr 26, 2020 (154)
163 SGDP_PRJ NC_000004.11 - 55152040 Apr 26, 2020 (154)
164 Siberian NC_000004.11 - 55152040 Apr 26, 2020 (154)
165 8.3KJPN NC_000004.11 - 55152040 Apr 26, 2021 (155)
166 TopMed NC_000004.12 - 54285873 Apr 26, 2021 (155)
167 UK 10K study - Twins NC_000004.11 - 55152040 Oct 12, 2018 (152)
168 ALFA NC_000004.12 - 54285873 Apr 26, 2021 (155)
169 ClinVar RCV000247800.1 Oct 12, 2018 (152)
170 ClinVar RCV000275201.2 Apr 26, 2021 (155)
171 ClinVar RCV000369832.2 Apr 26, 2021 (155)
172 ClinVar RCV001015670.1 Apr 26, 2020 (154)
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)
rs2291590 Jan 04, 2002 (102)
rs10015469 Mar 10, 2006 (126)
rs57781226 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1687494489, ss2734511462 NC_000004.11:55152039:C:A NC_000004.12:54285872:C:A (self)
ss80454775, ss84754409, ss3639246032, ss3639921940, ss3643968192 NC_000004.9:54992967:C:T NC_000004.12:54285872:C:T (self)
428029, ss112243441, ss113064646, ss116989939, ss163439882, ss198502471, ss206559874, ss277711351, ss284905964, ss293069183, ss480471702, ss491854263, ss1589592230, ss1712671997, ss3643437530, ss3847750137 NC_000004.10:54846796:C:T NC_000004.12:54285872:C:T (self)
21060147, 11720946, 315792, 8296152, 30736, 6712722, 474421, 5167417, 12324906, 175472, 4417644, 295204, 77268, 5375924, 10927537, 2892114, 23612261, 11720946, ss220915526, ss232385318, ss239680099, ss342163459, ss480486037, ss481283205, ss485033326, ss490887534, ss537057449, ss557504667, ss651300954, ss778486276, ss782962909, ss783924960, ss832219147, ss832881839, ss833942215, ss974452528, ss980094794, ss1067461224, ss1071522049, ss1309667450, ss1429877039, ss1580547783, ss1584034275, ss1610051049, ss1653045082, ss1687494488, ss1711059712, ss1752525287, ss1801422275, ss1923333994, ss1946116050, ss1958682895, ss1966658488, ss2022250499, ss2150375760, ss2430460438, ss2625624573, ss2634117838, ss2705840727, ss2711004893, ss2734511462, ss2747238627, ss2809119116, ss2994673273, ss3022372835, ss3345705722, ss3625843519, ss3628962835, ss3632054677, ss3633334541, ss3634053508, ss3634951840, ss3635736451, ss3636654713, ss3637488965, ss3638486090, ss3640659136, ss3644848822, ss3646307557, ss3652857452, ss3662557904, ss3731132779, ss3744234327, ss3745252102, ss3761776583, ss3772746759, ss3824016196, ss3825657224, ss3828529682, ss3837702061, ss3858910557, ss3905147512, ss3984283386, ss3984283387, ss3984527908, ss3985069277, ss3986027538, ss3986279940, ss5165642954, ss5236854799, ss5236859998, ss5236859999 NC_000004.11:55152039:C:T NC_000004.12:54285872:C:T (self)
RCV000247800.1, RCV000275201.2, RCV000369832.2, RCV001015670.1, 149288624, 2612413, 10534483, 345390, 281695390, 450678518, 10246050194, ss2262810631, ss3024896305, ss3428649559, ss3712019386, ss3726132601, ss3771123921, ss3804911927, ss3843138112, ss3954156482, ss4613300962, ss5237006363 NC_000004.12:54285872:C:T NC_000004.12:54285872:C:T (self)
ss13861808 NT_022853.14:2491922:C:T NC_000004.12:54285872:C:T (self)
ss3233926, ss23712609, ss48420041, ss66086879, ss67235491, ss67631585, ss68199623, ss70713833, ss71281513, ss74802224, ss75776703, ss76035546, ss76866479, ss84001663, ss95212908, ss153887922, ss159370011, ss159707628, ss160517228, ss170681420, ss173192334, ss244287909 NT_022853.15:2491922:C:T NC_000004.12:54285872: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.

9 citations for rs2228230
PMID Title Author Year Journal
17014709 Expression of platelet derived growth factor family members and the potential role of imatinib mesylate for cervical cancer. Taja-Chayeb L et al. 2006 Cancer cell international
19563658 Molecular characterization of EGFR, PDGFRA and VEGFR2 in cervical adenosquamous carcinoma. Longatto-Filho A et al. 2009 BMC cancer
22009637 Extragastrointestinal stromal tumor in a kidney transplant recipient. Tu H et al. 2012 Clinical and experimental nephrology
22144915 Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism. Fan Q et al. 2011 PLoS genetics
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
29290970 Single nucleotide polymorphisms as prognostic and predictive biomarkers in renal cell carcinoma. Garrigós C et al. 2017 Oncotarget
30038270 PDGFRA gene, maternal binge drinking and obstructive heart defects. Tang X et al. 2018 Scientific reports
32226509 A Functional Synonymous Variant in <i>PDGFRA</i> Is Associated with Better Survival in Acral Melanoma. Dai J et al. 2020 Journal of Cancer
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