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rs121913514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913514(A;A)
Make rs121913514(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position54733174
GeneKIT
is asnp
is mentioned by
dbSNPrs121913514
dbSNP (old)rs121913514
ClinGenrs121913514
ebirs121913514
HLIrs121913514
Exacrs121913514
Gnomadrs121913514
Varsomers121913514
Maprs121913514
PheGenIrs121913514
Biobankrs121913514
1000 genomesrs121913514
hgdprs121913514
ensemblrs121913514
gopubmedrs121913514
geneviewrs121913514
scholarrs121913514
googlers121913514
pharmgkbrs121913514
gwascentralrs121913514
openSNPrs121913514
23andMers121913514
23andMe allrs121913514
SNPshotrs121913514
SNPdbers121913514
MSV3drs121913514
GWAS Ctlgrs121913514
Max Magnitude0
ClinVar
Risk rs121913514(A;A) rs121913514(G;G)
Alt rs121913514(A;A) rs121913514(G;G)
Reference Rs121913514(T;T)
Significance Pathogenic
Disease Gastrointestinal stromal tumor Acute myeloid leukemia Malignant melanoma
Variation info
Gene KIT
CLNDBN Gastrointestinal stromal tumor Acute myeloid leukemia Malignant melanoma
Reversed 0
HGVS NC_000004.11:g.55599340T>A; NC_000004.11:g.55599340T>G
CLNSRC
CLNACC RCV000419670.1, RCV000429954.1, RCV000436687.1, RCV000419001.1, RCV000429190.1, RCV000439434.1,