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rs200375589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200375589(A;A)
Make rs200375589(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54727442
GeneKIT
is asnp
is mentioned by
dbSNPrs200375589
dbSNP (classic)rs200375589
ClinGenrs200375589
ebirs200375589
HLIrs200375589
Exacrs200375589
Gnomadrs200375589
Varsomers200375589
LitVarrs200375589
Maprs200375589
PheGenIrs200375589
Biobankrs200375589
1000 genomesrs200375589
hgdprs200375589
ensemblrs200375589
geneviewrs200375589
scholarrs200375589
googlers200375589
pharmgkbrs200375589
gwascentralrs200375589
openSNPrs200375589
23andMers200375589
23andMe allrs200375589
SNPshotrs200375589
SNPdbers200375589
MSV3drs200375589
GWAS Ctlgrs200375589
Max Magnitude0
ClinVar
Risk rs200375589(A;A) rs200375589(C;C) rs200375589(T;T)
Alt rs200375589(A;A) rs200375589(C;C) rs200375589(T;T)
Reference Rs200375589(G;G)
Significance Pathogenic
Disease Gastrointestinal stromal tumor Malignant melanoma
Variation info
Gene KIT
CLNDBN Gastrointestinal stromal tumor Malignant melanoma
Reversed 0
HGVS NC_000004.11:g.55593608G>A; NC_000004.11:g.55593608G>C; NC_000004.11:g.55593608G>T
CLNSRC
CLNACC RCV000205733.3, RCV000443034.1, RCV000426003.1, RCV000436617.1,