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rs121913513

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913513(C;C)
Make rs121913513(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54727495
GeneKIT
is asnp
is mentioned by
dbSNPrs121913513
dbSNP (old)rs121913513
ClinGenrs121913513
ebirs121913513
HLIrs121913513
Exacrs121913513
Gnomadrs121913513
Varsomers121913513
Maprs121913513
PheGenIrs121913513
Biobankrs121913513
1000 genomesrs121913513
hgdprs121913513
ensemblrs121913513
gopubmedrs121913513
geneviewrs121913513
scholarrs121913513
googlers121913513
pharmgkbrs121913513
gwascentralrs121913513
openSNPrs121913513
23andMers121913513
23andMe allrs121913513
SNPshotrs121913513
SNPdbers121913513
MSV3drs121913513
GWAS Ctlgrs121913513
Max Magnitude0
ClinVar
Risk rs121913513(C;C)
Alt rs121913513(C;C)
Reference Rs121913513(T;T)
Significance Pathogenic
Disease Malignant melanoma Non-small cell lung cancer Gastrointestinal stromal tumor Thymoma
Variation info
Gene KIT
CLNDBN Malignant melanoma Non-small cell lung cancer Gastrointestinal stromal tumor Thymoma
Reversed 0
HGVS NC_000004.11:g.55593661T>C
CLNSRC
CLNACC RCV000426330.1, RCV000426967.1, RCV000433543.1, RCV000443552.1,