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rs794726674

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794726674(-;-)
Make rs794726674(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position54695697
GeneKIT
is asnp
is mentioned by
dbSNPrs794726674
ebirs794726674
HLIrs794726674
Exacrs794726674
Varsomers794726674
Maprs794726674
PheGenIrs794726674
hapmaprs794726674
1000 genomesrs794726674
hgdprs794726674
ensemblrs794726674
gopubmedrs794726674
geneviewrs794726674
scholarrs794726674
googlers794726674
pharmgkbrs794726674
gwascentralrs794726674
openSNPrs794726674
23andMers794726674
23andMe allrs794726674
SNP Nexus

SNPshotrs794726674
SNPdbers794726674
MSV3drs794726674
GWAS Ctlgrs794726674
Max Magnitude0
ClinVar
Risk rs794726674(;)
Alt rs794726674(;)
Reference rs794726674(G;G)
Significance Pathogenic
Disease Partial albinism
Variation info
Gene KIT
CLNDBN Partial albinism
Reversed 0
HGVS NC_000004.11:g.55561863delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000014862.26,