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rs794726671

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794726671(G;G)
Make rs794726671(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position54727520
GeneKIT
is asnp
is mentioned by
dbSNPrs794726671
ebirs794726671
HLIrs794726671
Exacrs794726671
Varsomers794726671
Maprs794726671
PheGenIrs794726671
hapmaprs794726671
1000 genomesrs794726671
hgdprs794726671
ensemblrs794726671
gopubmedrs794726671
geneviewrs794726671
scholarrs794726671
googlers794726671
pharmgkbrs794726671
gwascentralrs794726671
openSNPrs794726671
23andMers794726671
23andMe allrs794726671
SNP Nexus

SNPshotrs794726671
SNPdbers794726671
MSV3drs794726671
GWAS Ctlgrs794726671
Max Magnitude0
ClinVar
Risk rs794726671(G;G)
Alt rs794726671(G;G)
Reference rs794726671(T;T)
Significance Pathogenic
Disease Partial albinism
Variation info
Gene KIT
CLNDBN Partial albinism
Reversed 0
HGVS NC_000004.11:g.55593686T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014857.22,