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rs794726675

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726675(A;A)
Make rs794726675(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position54727928
GeneKIT
is asnp
is mentioned by
dbSNPrs794726675
ebirs794726675
HLIrs794726675
Exacrs794726675
Varsomers794726675
Maprs794726675
PheGenIrs794726675
hapmaprs794726675
1000 genomesrs794726675
hgdprs794726675
ensemblrs794726675
gopubmedrs794726675
geneviewrs794726675
scholarrs794726675
googlers794726675
pharmgkbrs794726675
gwascentralrs794726675
openSNPrs794726675
23andMers794726675
23andMe allrs794726675
SNP Nexus

SNPshotrs794726675
SNPdbers794726675
MSV3drs794726675
GWAS Ctlgrs794726675
Max Magnitude0
ClinVar
Risk rs794726675(A;A)
Alt rs794726675(A;A)
Reference rs794726675(G;G)
Significance Pathogenic
Disease Partial albinism
Variation info
Gene KIT
CLNDBN Partial albinism
Reversed 0
HGVS NC_000004.11:g.55594094G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014863.26,