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rs121913685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTT;GTT) 0 common in clinvar
Make rs121913685(-;-)
Make rs121913685(-;GTT)
ReferenceGRCh38 38.1/141
Chromosome4
Position54727443
GeneKIT
is asnp
is mentioned by
dbSNPrs121913685
ebirs121913685
HLIrs121913685
Exacrs121913685
Varsomers121913685
Maprs121913685
PheGenIrs121913685
hapmaprs121913685
1000 genomesrs121913685
hgdprs121913685
ensemblrs121913685
gopubmedrs121913685
geneviewrs121913685
scholarrs121913685
googlers121913685
pharmgkbrs121913685
gwascentralrs121913685
openSNPrs121913685
23andMers121913685
23andMe allrs121913685
SNP Nexus

SNPshotrs121913685
SNPdbers121913685
MSV3drs121913685
GWAS Ctlgrs121913685
Max Magnitude0
OMIM164920
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121913685(;)
Alt rs121913685(;)
Reference rs121913685(GTT;GTT)
Significance Pathogenic
Disease Gastrointestinal stromal tumor
Variation info
Gene KIT
CLNDBN Gastrointestinal stromal tumor, familial
Reversed 0
HGVS NC_000004.11:g.55593609_55593611delGTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000014873.25,