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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.

rs1873778

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:54274888 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.038577 (10211/264690, TOPMED)
A=0.009953 (2500/251180, GnomAD_exome)
A=0.035511 (4979/140212, GnomAD) (+ 19 more)
A=0.011960 (1452/121404, ExAC)
A=0.01184 (1008/85130, ALFA)
A=0.00000 (0/16760, 8.3KJPN)
A=0.04113 (535/13006, GO-ESP)
A=0.0423 (212/5008, 1000G)
A=0.0005 (2/3854, ALSPAC)
A=0.0005 (2/3708, TWINSUK)
A=0.0007 (2/2930, KOREAN)
A=0.0000 (0/1832, Korea1K)
A=0.1024 (130/1270, HapMap)
A=0.002 (2/998, GoNL)
A=0.000 (0/610, Vietnamese)
A=0.000 (0/600, NorthernSweden)
A=0.018 (10/546, SGDP_PRJ)
A=0.007 (4/534, MGP)
A=0.000 (0/304, FINRISK)
A=0.023 (5/216, Qatari)
A=0.00 (0/56, Siberian)
A=0.00 (0/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PDGFRA : Synonymous Variant
Publications
6 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.54274888A>C
GRCh38.p13 chr 4 NC_000004.12:g.54274888A>G
GRCh38.p13 chr 4 NC_000004.12:g.54274888A>T
GRCh37.p13 chr 4 NC_000004.11:g.55141055A>C
GRCh37.p13 chr 4 NC_000004.11:g.55141055A>G
GRCh37.p13 chr 4 NC_000004.11:g.55141055A>T
PDGFRA RefSeqGene (LRG_309) NG_009250.1:g.50792A>C
PDGFRA RefSeqGene (LRG_309) NG_009250.1:g.50792A>G
PDGFRA RefSeqGene (LRG_309) NG_009250.1:g.50792A>T
Gene: PDGFRA, platelet derived growth factor receptor alpha (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PDGFRA transcript variant 1 NM_006206.6:c.1701A>C P [CCA] > P [CCC] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_006197.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 1 NM_006206.6:c.1701A>G P [CCA] > P [CCG] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_006197.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 1 NM_006206.6:c.1701A>T P [CCA] > P [CCT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_006197.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 2 NM_001347827.2:c.1701A>C P [CCA] > P [CCC] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 2 precursor NP_001334756.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 2 NM_001347827.2:c.1701A>G P [CCA] > P [CCG] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 2 precursor NP_001334756.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 2 NM_001347827.2:c.1701A>T P [CCA] > P [CCT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 2 precursor NP_001334756.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 5 NM_001347829.2:c.1701A>C P [CCA] > P [CCC] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_001334758.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 5 NM_001347829.2:c.1701A>G P [CCA] > P [CCG] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_001334758.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 5 NM_001347829.2:c.1701A>T P [CCA] > P [CCT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 1 precursor NP_001334758.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 3 NM_001347828.2:c.1776A>C P [CCA] > P [CCC] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 3 NP_001334757.1:p.Pro592= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 3 NM_001347828.2:c.1776A>G P [CCA] > P [CCG] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 3 NP_001334757.1:p.Pro592= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 3 NM_001347828.2:c.1776A>T P [CCA] > P [CCT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 3 NP_001334757.1:p.Pro592= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 4 NM_001347830.2:c.1740A>C P [CCA] > P [CCC] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 4 NP_001334759.1:p.Pro580= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 4 NM_001347830.2:c.1740A>G P [CCA] > P [CCG] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 4 NP_001334759.1:p.Pro580= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant 4 NM_001347830.2:c.1740A>T P [CCA] > P [CCT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform 4 NP_001334759.1:p.Pro580= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant X1 XM_005265743.1:c.1701A>C P [CCA] > P [CCC] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X1 XP_005265800.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant X1 XM_005265743.1:c.1701A>G P [CCA] > P [CCG] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X1 XP_005265800.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant X1 XM_005265743.1:c.1701A>T P [CCA] > P [CCT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X1 XP_005265800.1:p.Pro567= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant X2 XM_006714041.3:c.1776A>C P [CCA] > P [CCC] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X2 XP_006714104.1:p.Pro592= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant X2 XM_006714041.3:c.1776A>G P [CCA] > P [CCG] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X2 XP_006714104.1:p.Pro592= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant X2 XM_006714041.3:c.1776A>T P [CCA] > P [CCT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X2 XP_006714104.1:p.Pro592= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant X3 XM_017008281.1:c.1740A>C P [CCA] > P [CCC] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X3 XP_016863770.1:p.Pro580= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant X3 XM_017008281.1:c.1740A>G P [CCA] > P [CCG] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X3 XP_016863770.1:p.Pro580= P (Pro) > P (Pro) Synonymous Variant
PDGFRA transcript variant X3 XM_017008281.1:c.1740A>T P [CCA] > P [CCT] Coding Sequence Variant
platelet-derived growth factor receptor alpha isoform X3 XP_016863770.1:p.Pro580= P (Pro) > P (Pro) 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: G (allele ID: 251495 )
ClinVar Accession Disease Names Clinical Significance
RCV000250036.1 not specified Benign
RCV000281727.2 Gastrointestinal stromal tumor Benign
RCV000385643.2 Idiopathic hypereosinophilic syndrome Benign
RCV001012777.1 Hereditary cancer-predisposing syndrome Benign
RCV001250951.1 Squamous cell lung carcinoma Likely-Benign

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 85130 A=0.01184 G=0.98816
European Sub 65332 A=0.00335 G=0.99665
African Sub 6456 A=0.1021 G=0.8979
African Others Sub 210 A=0.129 G=0.871
African American Sub 6246 A=0.1012 G=0.8988
Asian Sub 556 A=0.002 G=0.998
East Asian Sub 426 A=0.000 G=1.000
Other Asian Sub 130 A=0.008 G=0.992
Latin American 1 Sub 954 A=0.035 G=0.965
Latin American 2 Sub 1088 A=0.0110 G=0.9890
South Asian Sub 190 A=0.000 G=1.000
Other Sub 10554 A=0.00796 G=0.99204


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 A=0.038577 G=0.961423
gnomAD - Exomes Global Study-wide 251180 A=0.009953 G=0.990047
gnomAD - Exomes European Sub 135144 A=0.001598 G=0.998402
gnomAD - Exomes Asian Sub 49002 A=0.00022 G=0.99978
gnomAD - Exomes American Sub 34590 A=0.00864 G=0.99136
gnomAD - Exomes African Sub 16256 A=0.11491 G=0.88509
gnomAD - Exomes Ashkenazi Jewish Sub 10064 A=0.00576 G=0.99424
gnomAD - Exomes Other Sub 6124 A=0.0078 G=0.9922
gnomAD - Genomes Global Study-wide 140212 A=0.035511 G=0.964489
gnomAD - Genomes European Sub 75966 A=0.00147 G=0.99853
gnomAD - Genomes African Sub 41994 A=0.10892 G=0.89108
gnomAD - Genomes American Sub 13648 A=0.01487 G=0.98513
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.0075 G=0.9925
gnomAD - Genomes East Asian Sub 3128 A=0.0003 G=0.9997
gnomAD - Genomes Other Sub 2154 A=0.0297 G=0.9703
ExAC Global Study-wide 121404 A=0.011960 G=0.988040
ExAC Europe Sub 73352 A=0.00158 G=0.99842
ExAC Asian Sub 25160 A=0.00028 G=0.99972
ExAC American Sub 11578 A=0.00795 G=0.99205
ExAC African Sub 10406 A=0.11791 G=0.88209
ExAC Other Sub 908 A=0.011 G=0.989
Allele Frequency Aggregator Total Global 85130 A=0.01184 G=0.98816
Allele Frequency Aggregator European Sub 65332 A=0.00335 G=0.99665
Allele Frequency Aggregator Other Sub 10554 A=0.00796 G=0.99204
Allele Frequency Aggregator African Sub 6456 A=0.1021 G=0.8979
Allele Frequency Aggregator Latin American 2 Sub 1088 A=0.0110 G=0.9890
Allele Frequency Aggregator Latin American 1 Sub 954 A=0.035 G=0.965
Allele Frequency Aggregator Asian Sub 556 A=0.002 G=0.998
Allele Frequency Aggregator South Asian Sub 190 A=0.000 G=1.000
8.3KJPN JAPANESE Study-wide 16760 A=0.00000 G=1.00000
GO Exome Sequencing Project Global Study-wide 13006 A=0.04113 G=0.95887
GO Exome Sequencing Project European American Sub 8600 A=0.0015 G=0.9985
GO Exome Sequencing Project African American Sub 4406 A=0.1185 G=0.8815
1000Genomes Global Study-wide 5008 A=0.0423 G=0.9577
1000Genomes African Sub 1322 A=0.1558 G=0.8442
1000Genomes East Asian Sub 1008 A=0.0000 G=1.0000
1000Genomes Europe Sub 1006 A=0.0010 G=0.9990
1000Genomes South Asian Sub 978 A=0.000 G=1.000
1000Genomes American Sub 694 A=0.007 G=0.993
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.0005 G=0.9995
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.0005 G=0.9995
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0007 C=0.0000, G=0.9993, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.0000 G=1.0000
HapMap Global Study-wide 1270 A=0.1024 G=0.8976
HapMap African Sub 688 A=0.169 G=0.831
HapMap American Sub 500 A=0.020 G=0.980
HapMap Asian Sub 82 A=0.05 G=0.95
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.002 G=0.998
A Vietnamese Genetic Variation Database Global Study-wide 610 A=0.000 G=1.000
Northern Sweden ACPOP Study-wide 600 A=0.000 G=1.000
SGDP_PRJ Global Study-wide 546 A=0.018 G=0.982
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.007 G=0.993
FINRISK Finnish from FINRISK project Study-wide 304 A=0.000 G=1.000
Qatari Global Study-wide 216 A=0.023 G=0.977
Siberian Global Study-wide 56 A=0.00 G=1.00
The Danish reference pan genome Danish Study-wide 40 A=0.00 G=1.00
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 A= C G T
GRCh38.p13 chr 4 NC_000004.12:g.54274888= NC_000004.12:g.54274888A>C NC_000004.12:g.54274888A>G NC_000004.12:g.54274888A>T
GRCh37.p13 chr 4 NC_000004.11:g.55141055= NC_000004.11:g.55141055A>C NC_000004.11:g.55141055A>G NC_000004.11:g.55141055A>T
PDGFRA RefSeqGene (LRG_309) NG_009250.1:g.50792= NG_009250.1:g.50792A>C NG_009250.1:g.50792A>G NG_009250.1:g.50792A>T
PDGFRA transcript variant 1 NM_006206.6:c.1701= NM_006206.6:c.1701A>C NM_006206.6:c.1701A>G NM_006206.6:c.1701A>T
PDGFRA transcript variant 1 NM_006206.5:c.1701= NM_006206.5:c.1701A>C NM_006206.5:c.1701A>G NM_006206.5:c.1701A>T
PDGFRA transcript NM_006206.4:c.1701= NM_006206.4:c.1701A>C NM_006206.4:c.1701A>G NM_006206.4:c.1701A>T
PDGFRA transcript variant 4 NM_001347830.2:c.1740= NM_001347830.2:c.1740A>C NM_001347830.2:c.1740A>G NM_001347830.2:c.1740A>T
PDGFRA transcript variant 4 NM_001347830.1:c.1740= NM_001347830.1:c.1740A>C NM_001347830.1:c.1740A>G NM_001347830.1:c.1740A>T
PDGFRA transcript variant 5 NM_001347829.2:c.1701= NM_001347829.2:c.1701A>C NM_001347829.2:c.1701A>G NM_001347829.2:c.1701A>T
PDGFRA transcript variant 5 NM_001347829.1:c.1701= NM_001347829.1:c.1701A>C NM_001347829.1:c.1701A>G NM_001347829.1:c.1701A>T
PDGFRA transcript variant 3 NM_001347828.2:c.1776= NM_001347828.2:c.1776A>C NM_001347828.2:c.1776A>G NM_001347828.2:c.1776A>T
PDGFRA transcript variant 3 NM_001347828.1:c.1776= NM_001347828.1:c.1776A>C NM_001347828.1:c.1776A>G NM_001347828.1:c.1776A>T
PDGFRA transcript variant 2 NM_001347827.2:c.1701= NM_001347827.2:c.1701A>C NM_001347827.2:c.1701A>G NM_001347827.2:c.1701A>T
PDGFRA transcript variant 2 NM_001347827.1:c.1701= NM_001347827.1:c.1701A>C NM_001347827.1:c.1701A>G NM_001347827.1:c.1701A>T
PDGFRA transcript variant X2 XM_006714041.3:c.1776= XM_006714041.3:c.1776A>C XM_006714041.3:c.1776A>G XM_006714041.3:c.1776A>T
PDGFRA transcript variant X1 XM_005265743.1:c.1701= XM_005265743.1:c.1701A>C XM_005265743.1:c.1701A>G XM_005265743.1:c.1701A>T
PDGFRA transcript variant X3 XM_017008281.1:c.1740= XM_017008281.1:c.1740A>C XM_017008281.1:c.1740A>G XM_017008281.1:c.1740A>T
platelet-derived growth factor receptor alpha isoform 1 precursor NP_006197.1:p.Pro567= NP_006197.1:p.Pro567= NP_006197.1:p.Pro567= NP_006197.1:p.Pro567=
platelet-derived growth factor receptor alpha isoform 4 NP_001334759.1:p.Pro580= NP_001334759.1:p.Pro580= NP_001334759.1:p.Pro580= NP_001334759.1:p.Pro580=
platelet-derived growth factor receptor alpha isoform 1 precursor NP_001334758.1:p.Pro567= NP_001334758.1:p.Pro567= NP_001334758.1:p.Pro567= NP_001334758.1:p.Pro567=
platelet-derived growth factor receptor alpha isoform 3 NP_001334757.1:p.Pro592= NP_001334757.1:p.Pro592= NP_001334757.1:p.Pro592= NP_001334757.1:p.Pro592=
platelet-derived growth factor receptor alpha isoform 2 precursor NP_001334756.1:p.Pro567= NP_001334756.1:p.Pro567= NP_001334756.1:p.Pro567= NP_001334756.1:p.Pro567=
platelet-derived growth factor receptor alpha isoform X2 XP_006714104.1:p.Pro592= XP_006714104.1:p.Pro592= XP_006714104.1:p.Pro592= XP_006714104.1:p.Pro592=
platelet-derived growth factor receptor alpha isoform X1 XP_005265800.1:p.Pro567= XP_005265800.1:p.Pro567= XP_005265800.1:p.Pro567= XP_005265800.1:p.Pro567=
platelet-derived growth factor receptor alpha isoform X3 XP_016863770.1:p.Pro580= XP_016863770.1:p.Pro580= XP_016863770.1:p.Pro580= XP_016863770.1:p.Pro580=
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#.

117 SubSNP, 22 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2750577 Jan 12, 2001 (92)
2 SC_JCM ss5760675 Feb 20, 2003 (111)
3 WI_SSAHASNP ss6721445 Feb 20, 2003 (111)
4 BCM_SSAHASNP ss10173039 Jul 11, 2003 (116)
5 WI_SSAHASNP ss11680428 Jul 11, 2003 (116)
6 CSHL-HAPMAP ss20203362 Feb 27, 2004 (120)
7 SSAHASNP ss22185048 Apr 05, 2004 (121)
8 MGC_GENOME_DIFF ss28509491 Sep 24, 2004 (126)
9 HJ_MOLONC ss35073919 May 24, 2005 (125)
10 ABI ss44494240 Mar 10, 2006 (126)
11 APPLERA_GI ss48420037 Mar 10, 2006 (126)
12 AFFY ss66234830 Nov 29, 2006 (127)
13 AFFY ss76380539 Dec 07, 2007 (129)
14 CGM_KYOTO ss76866469 Dec 07, 2007 (129)
15 KRIBB_YJKIM ss81607804 Dec 15, 2007 (130)
16 HGSV ss82105404 Dec 14, 2007 (130)
17 BCMHGSC_JDW ss92583240 Mar 24, 2008 (129)
18 CNG ss95211564 Mar 25, 2008 (129)
19 HUMANGENOME_JCVI ss98822984 Feb 04, 2009 (130)
20 BGI ss105826839 Feb 04, 2009 (130)
21 1000GENOMES ss112243239 Jan 25, 2009 (130)
22 1000GENOMES ss113064614 Jan 25, 2009 (130)
23 ILLUMINA-UK ss116989897 Feb 14, 2009 (130)
24 ENSEMBL ss134697966 Dec 01, 2009 (131)
25 ENSEMBL ss139611524 Dec 01, 2009 (131)
26 GMI ss157256409 Dec 01, 2009 (131)
27 SEATTLESEQ ss159707626 Dec 01, 2009 (131)
28 ILLUMINA ss160469936 Dec 01, 2009 (131)
29 COMPLETE_GENOMICS ss162109217 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss163439754 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss166574438 Jul 04, 2010 (132)
32 ILLUMINA ss168900613 Jul 04, 2010 (132)
33 AFFY ss173429852 Jul 04, 2010 (132)
34 BUSHMAN ss198502323 Jul 04, 2010 (132)
35 BCM-HGSC-SUB ss206342879 Jul 04, 2010 (132)
36 1000GENOMES ss220915471 Jul 14, 2010 (132)
37 1000GENOMES ss232385280 Jul 14, 2010 (132)
38 1000GENOMES ss239680068 Jul 15, 2010 (132)
39 ILLUMINA ss244285464 Jul 04, 2010 (132)
40 BL ss253131802 May 09, 2011 (134)
41 GMI ss277711308 May 04, 2012 (137)
42 GMI ss284905934 Apr 25, 2013 (138)
43 PJP ss293069151 May 09, 2011 (134)
44 NHLBI-ESP ss342163445 May 09, 2011 (134)
45 ILLUMINA ss479933272 May 04, 2012 (137)
46 ILLUMINA ss481095367 Sep 08, 2015 (146)
47 ILLUMINA ss484831103 May 04, 2012 (137)
48 1000GENOMES ss490887518 May 04, 2012 (137)
49 CLINSEQ_SNP ss491854256 May 04, 2012 (137)
50 ILLUMINA ss533404357 Sep 08, 2015 (146)
51 TISHKOFF ss557504616 Apr 25, 2013 (138)
52 SSMP ss651300896 Apr 25, 2013 (138)
53 ILLUMINA ss778660749 Sep 08, 2015 (146)
54 ILLUMINA ss781104967 Sep 08, 2015 (146)
55 ILLUMINA ss834118910 Sep 08, 2015 (146)
56 JMKIDD_LAB ss974452527 Aug 21, 2014 (142)
57 EVA-GONL ss980094723 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1067461219 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1071521990 Aug 21, 2014 (142)
60 1000GENOMES ss1309667138 Aug 21, 2014 (142)
61 DDI ss1429877014 Apr 01, 2015 (144)
62 EVA_GENOME_DK ss1580547748 Apr 01, 2015 (144)
63 EVA_FINRISK ss1584034272 Apr 01, 2015 (144)
64 EVA_DECODE ss1589592150 Apr 01, 2015 (144)
65 EVA_UK10K_ALSPAC ss1610050911 Apr 01, 2015 (144)
66 EVA_UK10K_TWINSUK ss1653044944 Apr 01, 2015 (144)
67 EVA_EXAC ss1687494280 Apr 01, 2015 (144)
68 EVA_MGP ss1711059696 Apr 01, 2015 (144)
69 EVA_SVP ss1712671988 Apr 01, 2015 (144)
70 HAMMER_LAB ss1801422140 Sep 08, 2015 (146)
71 WEILL_CORNELL_DGM ss1923333919 Feb 12, 2016 (147)
72 GENOMED ss1966658487 Feb 12, 2016 (147)
73 JJLAB ss2022250451 Sep 14, 2016 (149)
74 USC_VALOUEV ss2150375718 Dec 20, 2016 (150)
75 HUMAN_LONGEVITY ss2262810085 Dec 20, 2016 (150)
76 TOPMED ss2430459889 Dec 20, 2016 (150)
77 SYSTEMSBIOZJU ss2625624539 Nov 08, 2017 (151)
78 ILLUMINA ss2634117827 Nov 08, 2017 (151)
79 GRF ss2705840681 Nov 08, 2017 (151)
80 GNOMAD ss2734511120 Nov 08, 2017 (151)
81 GNOMAD ss2747238527 Nov 08, 2017 (151)
82 GNOMAD ss2809118336 Nov 08, 2017 (151)
83 SWEGEN ss2994673157 Nov 08, 2017 (151)
84 CSHL ss3345705689 Nov 08, 2017 (151)
85 TOPMED ss3428647759 Nov 08, 2017 (151)
86 ILLUMINA ss3628962812 Oct 12, 2018 (152)
87 ILLUMINA ss3632054666 Oct 12, 2018 (152)
88 ILLUMINA ss3636654708 Oct 12, 2018 (152)
89 ILLUMINA ss3638486085 Oct 12, 2018 (152)
90 BIOINF_KMB_FNS_UNIBA ss3645794451 Oct 12, 2018 (152)
91 OMUKHERJEE_ADBS ss3646307546 Oct 12, 2018 (152)
92 URBANLAB ss3647725345 Oct 12, 2018 (152)
93 EVA_DECODE ss3712019217 Jul 13, 2019 (153)
94 ACPOP ss3731132714 Jul 13, 2019 (153)
95 EVA ss3761776507 Jul 13, 2019 (153)
96 PACBIO ss3784709093 Jul 13, 2019 (153)
97 PACBIO ss3790167451 Jul 13, 2019 (153)
98 PACBIO ss3795042567 Jul 13, 2019 (153)
99 KHV_HUMAN_GENOMES ss3804911828 Jul 13, 2019 (153)
100 EVA ss3824016152 Apr 26, 2020 (154)
101 EVA ss3825657217 Apr 26, 2020 (154)
102 EVA ss3828529619 Apr 26, 2020 (154)
103 EVA ss3837702026 Apr 26, 2020 (154)
104 EVA ss3843138077 Apr 26, 2020 (154)
105 SGDP_PRJ ss3858910410 Apr 26, 2020 (154)
106 KRGDB ss3905147357 Apr 26, 2020 (154)
107 KOGIC ss3954156347 Apr 26, 2020 (154)
108 FSA-LAB ss3984283365 Apr 26, 2021 (155)
109 FSA-LAB ss3984283366 Apr 26, 2021 (155)
110 EVA ss3986027536 Apr 26, 2021 (155)
111 EVA ss3986279913 Apr 26, 2021 (155)
112 TOPMED ss4613298616 Apr 26, 2021 (155)
113 TOMMO_GENOMICS ss5165642598 Apr 26, 2021 (155)
114 CPQ_GEN_INCA ss5236854795 Apr 26, 2021 (155)
115 CPQ_GEN_INCA ss5236859983 Apr 26, 2021 (155)
116 EVA ss5237006358 Apr 26, 2021 (155)
117 EVA ss5237181986 Apr 26, 2021 (155)
118 1000Genomes NC_000004.11 - 55141055 Oct 12, 2018 (152)
119 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 55141055 Oct 12, 2018 (152)
120 ExAC NC_000004.11 - 55141055 Oct 12, 2018 (152)
121 FINRISK NC_000004.11 - 55141055 Apr 26, 2020 (154)
122 The Danish reference pan genome NC_000004.11 - 55141055 Apr 26, 2020 (154)
123 gnomAD - Genomes NC_000004.12 - 54274888 Apr 26, 2021 (155)
124 gnomAD - Exomes NC_000004.11 - 55141055 Jul 13, 2019 (153)
125 GO Exome Sequencing Project NC_000004.11 - 55141055 Oct 12, 2018 (152)
126 Genome of the Netherlands Release 5 NC_000004.11 - 55141055 Apr 26, 2020 (154)
127 HapMap NC_000004.12 - 54274888 Apr 26, 2020 (154)
128 KOREAN population from KRGDB NC_000004.11 - 55141055 Apr 26, 2020 (154)
129 Korean Genome Project NC_000004.12 - 54274888 Apr 26, 2020 (154)
130 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 55141055 Apr 26, 2020 (154)
131 Northern Sweden NC_000004.11 - 55141055 Jul 13, 2019 (153)
132 Qatari NC_000004.11 - 55141055 Apr 26, 2020 (154)
133 SGDP_PRJ NC_000004.11 - 55141055 Apr 26, 2020 (154)
134 Siberian NC_000004.11 - 55141055 Apr 26, 2020 (154)
135 8.3KJPN NC_000004.11 - 55141055 Apr 26, 2021 (155)
136 TopMed NC_000004.12 - 54274888 Apr 26, 2021 (155)
137 UK 10K study - Twins NC_000004.11 - 55141055 Oct 12, 2018 (152)
138 A Vietnamese Genetic Variation Database NC_000004.11 - 55141055 Jul 13, 2019 (153)
139 ALFA NC_000004.12 - 54274888 Apr 26, 2021 (155)
140 ClinVar RCV000250036.1 Oct 12, 2018 (152)
141 ClinVar RCV000281727.2 Apr 26, 2021 (155)
142 ClinVar RCV000385643.2 Apr 26, 2021 (155)
143 ClinVar RCV001012777.1 Apr 26, 2020 (154)
144 ClinVar RCV001250951.1 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)
rs17855189 Mar 10, 2006 (126)
rs57567160 May 23, 2008 (130)
rs59734438 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
12324751, ss3905147357 NC_000004.11:55141054:A:C NC_000004.12:54274887:A:C (self)
ss82105404 NC_000004.9:54981982:A:G NC_000004.12:54274887:A:G (self)
ss66234830, ss76380539, ss92583240, ss112243239, ss113064614, ss116989897, ss160469936, ss162109217, ss163439754, ss166574438, ss173429852, ss198502323, ss206342879, ss244285464, ss253131802, ss277711308, ss284905934, ss293069151, ss484831103, ss491854256, ss1589592150, ss1712671988 NC_000004.10:54835811:A:G NC_000004.12:54274887:A:G (self)
21059820, 11720785, 7458492, 30733, 6712687, 3614127, 474377, 5167346, 12324751, 175456, 4417579, 5375849, 10927390, 2892072, 23611905, 11720785, 2573544, ss220915471, ss232385280, ss239680068, ss342163445, ss479933272, ss481095367, ss490887518, ss533404357, ss557504616, ss651300896, ss778660749, ss781104967, ss834118910, ss974452527, ss980094723, ss1067461219, ss1071521990, ss1309667138, ss1429877014, ss1580547748, ss1584034272, ss1610050911, ss1653044944, ss1687494280, ss1711059696, ss1801422140, ss1923333919, ss1966658487, ss2022250451, ss2150375718, ss2430459889, ss2625624539, ss2634117827, ss2705840681, ss2734511120, ss2747238527, ss2809118336, ss2994673157, ss3345705689, ss3628962812, ss3632054666, ss3636654708, ss3638486085, ss3646307546, ss3731132714, ss3761776507, ss3784709093, ss3790167451, ss3795042567, ss3824016152, ss3825657217, ss3828529619, ss3837702026, ss3858910410, ss3905147357, ss3984283365, ss3984283366, ss3986027536, ss3986279913, ss5165642598, ss5236854795, ss5236859983 NC_000004.11:55141054:A:G NC_000004.12:54274887:A:G (self)
RCV000250036.1, RCV000281727.2, RCV000385643.2, RCV001012777.1, RCV001250951.1, 149286540, 2612397, 10534348, 281693946, 450676172, 1455244107, ss2262810085, ss3428647759, ss3645794451, ss3647725345, ss3712019217, ss3804911828, ss3843138077, ss3954156347, ss4613298616, ss5237006358, ss5237181986 NC_000004.12:54274887:A:G NC_000004.12:54274887:A:G (self)
ss10173039, ss11680428, ss20203362, ss22185048 NT_022853.14:2480937:A:G NC_000004.12:54274887:A:G (self)
ss2750577, ss5760675, ss6721445, ss28509491, ss35073919, ss44494240, ss48420037, ss76866469, ss81607804, ss95211564, ss98822984, ss105826839, ss134697966, ss139611524, ss157256409, ss159707626, ss168900613 NT_022853.15:2480937:A:G NC_000004.12:54274887:A:G (self)
12324751, ss3905147357 NC_000004.11:55141054:A:T NC_000004.12:54274887:A:T (self)
Help

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

6 citations for rs1873778
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
23146028 PDGFRα/β and VEGFR2 polymorphisms in colorectal cancer: incidence and implications in clinical outcome. Estevez-Garcia P et al. 2012 BMC cancer
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
32368160 Adamantinomatous Craniopharyngioma in an Adult: A Case Report with NGS Analysis. Jastania RA et al. 2020 International medical case reports journal
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