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rs121913507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913507(A;T)
Make rs121913507(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position54733155
GeneKIT
is asnp
is mentioned by
dbSNPrs121913507
ebirs121913507
HLIrs121913507
Exacrs121913507
Varsomers121913507
Maprs121913507
PheGenIrs121913507
hapmaprs121913507
1000 genomesrs121913507
hgdprs121913507
ensemblrs121913507
gopubmedrs121913507
geneviewrs121913507
scholarrs121913507
googlers121913507
pharmgkbrs121913507
gwascentralrs121913507
openSNPrs121913507
23andMers121913507
23andMe allrs121913507
SNP Nexus

SNPshotrs121913507
SNPdbers121913507
MSV3drs121913507
GWAS Ctlgrs121913507
Max Magnitude0
OMIM164920
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121913507(T;T)
Alt rs121913507(T;T)
Reference rs121913507(A;A)
Significance Pathogenic
Disease Mast cell leukemia Mastocytosis with associated hematologic disorder Mastocytosis
Variation info
Gene KIT
CLNDBN Mast cell leukemia Mastocytosis with associated hematologic disorder Mastocytosis, adult sporadic
Reversed 0
HGVS NC_000004.11:g.55599321A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014864.21, RCV000014865.25, RCV000014866.21,