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rs121913687

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913687(A;C)
Make rs121913687(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position54736552
GeneKIT
is asnp
is mentioned by
dbSNPrs121913687
ebirs121913687
HLIrs121913687
Exacrs121913687
Varsomers121913687
Maprs121913687
PheGenIrs121913687
hapmaprs121913687
1000 genomesrs121913687
hgdprs121913687
ensemblrs121913687
gopubmedrs121913687
geneviewrs121913687
scholarrs121913687
googlers121913687
pharmgkbrs121913687
gwascentralrs121913687
openSNPrs121913687
23andMers121913687
23andMe allrs121913687
SNP Nexus

SNPshotrs121913687
SNPdbers121913687
MSV3drs121913687
GWAS Ctlgrs121913687
Max Magnitude0
OMIM164920
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121913687(C;C)
Alt rs121913687(C;C)
Reference rs121913687(A;A)
Significance Pathogenic
Disease Partial albinism
Variation info
Gene KIT
CLNDBN Partial albinism
Reversed 0
HGVS NC_000004.11:g.55602718A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014875.25,