Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913523

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913523(C;C)
Make rs121913523(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54728092
GeneKIT
is asnp
is mentioned by
dbSNPrs121913523
dbSNP (old)rs121913523
ClinGenrs121913523
ebirs121913523
HLIrs121913523
Exacrs121913523
Gnomadrs121913523
Varsomers121913523
Maprs121913523
PheGenIrs121913523
Biobankrs121913523
1000 genomesrs121913523
hgdprs121913523
ensemblrs121913523
gopubmedrs121913523
geneviewrs121913523
scholarrs121913523
googlers121913523
pharmgkbrs121913523
gwascentralrs121913523
openSNPrs121913523
23andMers121913523
23andMe allrs121913523
SNPshotrs121913523
SNPdbers121913523
MSV3drs121913523
GWAS Ctlgrs121913523
Max Magnitude0
ClinVar
Risk rs121913523(A;A) rs121913523(C;C)
Alt rs121913523(A;A) rs121913523(C;C)
Reference Rs121913523(T;T)
Significance Pathogenic
Disease Malignant melanoma Gastrointestinal stromal tumor
Variation info
Gene KIT
CLNDBN Malignant melanoma Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000004.11:g.55594258T>A; NC_000004.11:g.55594258T>C
CLNSRC
CLNACC RCV000439135.1, RCV000427620.1, RCV000442533.1,