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rs121913680

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913680(A;A)
Make rs121913680(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position54727515
GeneKIT
is asnp
is mentioned by
dbSNPrs121913680
ebirs121913680
HLIrs121913680
Exacrs121913680
Varsomers121913680
Maprs121913680
PheGenIrs121913680
hapmaprs121913680
1000 genomesrs121913680
hgdprs121913680
ensemblrs121913680
gopubmedrs121913680
geneviewrs121913680
scholarrs121913680
googlers121913680
pharmgkbrs121913680
gwascentralrs121913680
openSNPrs121913680
23andMers121913680
23andMe allrs121913680
SNP Nexus

SNPshotrs121913680
SNPdbers121913680
MSV3drs121913680
GWAS Ctlgrs121913680
Max Magnitude0
OMIM164920
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121913680(A;A)
Alt rs121913680(A;A)
Reference rs121913680(G;G)
Significance Pathogenic
Disease Partial albinism
Variation info
Gene KIT
CLNDBN Partial albinism
Reversed 0
HGVS NC_000004.11:g.55593681G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014861.21,