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rs121913506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913506(C;C)
Make rs121913506(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position54733154
GeneKIT
is asnp
is mentioned by
dbSNPrs121913506
dbSNP (classic)rs121913506
ClinGenrs121913506
ebirs121913506
HLIrs121913506
Exacrs121913506
Gnomadrs121913506
Varsomers121913506
LitVarrs121913506
Maprs121913506
PheGenIrs121913506
Biobankrs121913506
1000 genomesrs121913506
hgdprs121913506
ensemblrs121913506
geneviewrs121913506
scholarrs121913506
googlers121913506
pharmgkbrs121913506
gwascentralrs121913506
openSNPrs121913506
23andMers121913506
SNPshotrs121913506
SNPdbers121913506
MSV3drs121913506
GWAS Ctlgrs121913506
Merged fromRs28933969
Max Magnitude0
OMIM164920
Desc
Variant0018
Relatedalso
OMIM164920
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121913506(C;C) rs121913506(T;T)
Alt rs121913506(C;C) rs121913506(T;T)
Reference Rs121913506(G;G)
Significance Pathogenic
Disease Malignant tumor of testis Acute myeloid leukemia Hematologic neoplasm Malignant melanoma Gastrointestinal stromal tumor
Variation info
Gene KIT
CLNDBN Malignant tumor of testis Acute myeloid leukemia Hematologic neoplasm Malignant melanoma Gastrointestinal stromal tumor
Reversed 0
HGVS NC_000004.11:g.55599320G>C; NC_000004.11:g.55599320G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014877.4, RCV000379347.1, RCV000418294.1, RCV000428990.1, RCV000439677.1, RCV000014874.26, RCV000422151.1, RCV000422812.1, RCV000429574.1,