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rs121913517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913517(C;C)
Make rs121913517(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position54727444
GeneKIT
is asnp
is mentioned by
dbSNPrs121913517
ebirs121913517
HLIrs121913517
Exacrs121913517
Varsomers121913517
Maprs121913517
PheGenIrs121913517
hapmaprs121913517
1000 genomesrs121913517
hgdprs121913517
ensemblrs121913517
gopubmedrs121913517
geneviewrs121913517
scholarrs121913517
googlers121913517
pharmgkbrs121913517
gwascentralrs121913517
openSNPrs121913517
23andMers121913517
23andMe allrs121913517
SNP Nexus

SNPshotrs121913517
SNPdbers121913517
MSV3drs121913517
GWAS Ctlgrs121913517
Max Magnitude0
OMIM164920
Desc
Variant0014
Relatedalso
OMIM164920
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121913517(A,C,G;A,C,G)
Alt rs121913517(A,C,G;A,C,G)
Reference rs121913517(T;T)
Significance Pathogenic
Disease Gastrointestinal stromal tumor Gastrointestinal stromal tumor
Variation info
Gene KIT
CLNDBN Gastrointestinal stromal tumor Gastrointestinal stromal tumor, familial
Reversed 0
HGVS NC_000004.11:g.55593610T>A; NC_000004.11:g.55593610T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014870.4, RCV000014879.25,