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rs121913679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913679(A;A)
Make rs121913679(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position54728121
GeneKIT
is asnp
is mentioned by
dbSNPrs121913679
ebirs121913679
HLIrs121913679
Exacrs121913679
Varsomers121913679
Maprs121913679
PheGenIrs121913679
hapmaprs121913679
1000 genomesrs121913679
hgdprs121913679
ensemblrs121913679
gopubmedrs121913679
geneviewrs121913679
scholarrs121913679
googlers121913679
pharmgkbrs121913679
gwascentralrs121913679
openSNPrs121913679
23andMers121913679
23andMe allrs121913679
SNP Nexus

SNPshotrs121913679
SNPdbers121913679
MSV3drs121913679
GWAS Ctlgrs121913679
Max Magnitude0
OMIM164920
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913679(A;A)
Alt rs121913679(A;A)
Reference rs121913679(G;G)
Significance Pathogenic
Disease Partial albinism
Variation info
Gene KIT
CLNDBN Partial albinism
Reversed 0
HGVS NC_000004.11:g.55594287G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014855.21,