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rs121913524

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913524(C;C)
Make rs121913524(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54733182
GeneKIT
is asnp
is mentioned by
dbSNPrs121913524
dbSNP (classic)rs121913524
ClinGenrs121913524
ebirs121913524
HLIrs121913524
Exacrs121913524
Gnomadrs121913524
Varsomers121913524
LitVarrs121913524
Maprs121913524
PheGenIrs121913524
Biobankrs121913524
1000 genomesrs121913524
hgdprs121913524
ensemblrs121913524
geneviewrs121913524
scholarrs121913524
googlers121913524
pharmgkbrs121913524
gwascentralrs121913524
openSNPrs121913524
23andMers121913524
SNPshotrs121913524
SNPdbers121913524
MSV3drs121913524
GWAS Ctlgrs121913524
Max Magnitude0
ClinVar
Risk rs121913524(C;C)
Alt rs121913524(C;C)
Reference Rs121913524(T;T)
Significance Probable-Pathogenic
Disease Malignant melanoma
Variation info
Gene KIT
CLNDBN Malignant melanoma
Reversed 0
HGVS NC_000004.11:g.55599348T>C
CLNSRC
CLNACC RCV000440432.1,