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rs121913521

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913521(A;A)
Make rs121913521(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54727447
GeneKIT
is asnp
is mentioned by
dbSNPrs121913521
dbSNP (old)rs121913521
ClinGenrs121913521
ebirs121913521
HLIrs121913521
Exacrs121913521
Gnomadrs121913521
Varsomers121913521
Maprs121913521
PheGenIrs121913521
Biobankrs121913521
1000 genomesrs121913521
hgdprs121913521
ensemblrs121913521
gopubmedrs121913521
geneviewrs121913521
scholarrs121913521
googlers121913521
pharmgkbrs121913521
gwascentralrs121913521
openSNPrs121913521
23andMers121913521
23andMe allrs121913521
SNPshotrs121913521
SNPdbers121913521
MSV3drs121913521
GWAS Ctlgrs121913521
Max Magnitude0
ClinVar
Risk rs121913521(A;A) rs121913521(C;C) rs121913521(G;G)
Alt rs121913521(A;A) rs121913521(C;C) rs121913521(G;G)
Reference Rs121913521(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.55593613T>A; NC_000004.11:g.55593613T>C; NC_000004.11:g.55593613T>G
CLNSRC
CLNACC RCV000421479.1, RCV000438714.1, RCV000432167.1, RCV000422100.1, RCV000439325.1,