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rs121913509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913509(A;A)
Make rs121913509(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position54736528
GeneKIT
is asnp
is mentioned by
dbSNPrs121913509
ebirs121913509
HLIrs121913509
Exacrs121913509
Varsomers121913509
Maprs121913509
PheGenIrs121913509
hapmaprs121913509
1000 genomesrs121913509
hgdprs121913509
ensemblrs121913509
gopubmedrs121913509
geneviewrs121913509
scholarrs121913509
googlers121913509
pharmgkbrs121913509
gwascentralrs121913509
openSNPrs121913509
23andMers121913509
23andMe allrs121913509
SNP Nexus

SNPshotrs121913509
SNPdbers121913509
MSV3drs121913509
GWAS Ctlgrs121913509
Max Magnitude0
OMIM164920
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121913509(A;A)
Alt rs121913509(A;A)
Reference rs121913509(G;G)
Significance Pathogenic
Disease Mastocytosis
Variation info
Gene KIT
CLNDBN Mastocytosis, sporadic, childhood-onset
Reversed 0
HGVS NC_000004.11:g.55602694G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014876.25,