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rs121913235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913235(C;C)
Make rs121913235(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54727437
GeneKIT
is asnp
is mentioned by
dbSNPrs121913235
dbSNP (old)rs121913235
ClinGenrs121913235
ebirs121913235
HLIrs121913235
Exacrs121913235
Gnomadrs121913235
Varsomers121913235
LitVarrs121913235
Maprs121913235
PheGenIrs121913235
Biobankrs121913235
1000 genomesrs121913235
hgdprs121913235
ensemblrs121913235
gopubmedrs121913235
geneviewrs121913235
scholarrs121913235
googlers121913235
pharmgkbrs121913235
gwascentralrs121913235
openSNPrs121913235
23andMers121913235
23andMe allrs121913235
SNPshotrs121913235
SNPdbers121913235
MSV3drs121913235
GWAS Ctlgrs121913235
Max Magnitude0
ClinVar
Risk rs121913235(A;A) rs121913235(C;C) rs121913235(G;G)
Alt rs121913235(A;A) rs121913235(C;C) rs121913235(G;G)
Reference Rs121913235(T;T)
Significance Pathogenic
Disease Malignant melanoma Gastrointestinal stromal tumor Thymoma
Variation info
Gene KIT
CLNDBN Malignant melanoma Gastrointestinal stromal tumor Thymoma
Reversed 0
HGVS NC_000004.11:g.55593603T>A; NC_000004.11:g.55593603T>C; NC_000004.11:g.55593603T>G
CLNSRC
CLNACC RCV000421211.1, RCV000431900.1, RCV000425331.1, RCV000432558.1, RCV000442970.1, RCV000417409.1,