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rs121908586

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs121908586(A;A)
Make rs121908586(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position54274869
GenePDGFRA
is asnp
is mentioned by
dbSNPrs121908586
dbSNP (classic)rs121908586
ClinGenrs121908586
ebirs121908586
HLIrs121908586
Exacrs121908586
Gnomadrs121908586
Varsomers121908586
LitVarrs121908586
Maprs121908586
PheGenIrs121908586
Biobankrs121908586
1000 genomesrs121908586
hgdprs121908586
ensemblrs121908586
geneviewrs121908586
scholarrs121908586
googlers121908586
pharmgkbrs121908586
gwascentralrs121908586
openSNPrs121908586
23andMers121908586
SNPshotrs121908586
SNPdbers121908586
MSV3drs121908586
GWAS Ctlgrs121908586
Max Magnitude0
OMIM173490
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908586(A;A) rs121908586(C;C)
Alt rs121908586(A;A) rs121908586(C;C)
Reference Rs121908586(T;T)
Significance Pathogenic
Disease Gastrointestinal stromal tumor Gastrointestinal stromal tumor
Variation info
Gene PDGFRA
CLNDBN Gastrointestinal stromal tumor Gastrointestinal stromal tumor, familial
Reversed 0
HGVS NC_000004.11:g.55141036T>A; NC_000004.11:g.55141036T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014504.6, RCV000014505.26, RCV000437945.1,