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rs121913516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913516(C;T)
Make rs121913516(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54729353
GeneKIT
is asnp
is mentioned by
dbSNPrs121913516
dbSNP (classic)rs121913516
ClinGenrs121913516
ebirs121913516
HLIrs121913516
Exacrs121913516
Gnomadrs121913516
Varsomers121913516
LitVarrs121913516
Maprs121913516
PheGenIrs121913516
Biobankrs121913516
1000 genomesrs121913516
hgdprs121913516
ensemblrs121913516
geneviewrs121913516
scholarrs121913516
googlers121913516
pharmgkbrs121913516
gwascentralrs121913516
openSNPrs121913516
23andMers121913516
SNPshotrs121913516
SNPdbers121913516
MSV3drs121913516
GWAS Ctlgrs121913516
Max Magnitude0
ClinVar
Risk rs121913516(T;T)
Alt rs121913516(T;T)
Reference Rs121913516(C;C)
Significance Probable-Pathogenic
Disease Gastrointestinal stromal tumor
Variation info
Gene KIT
CLNDBN Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000004.11:g.55595519C>T
CLNSRC
CLNACC RCV000421498.1,