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rs794727511

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727511(C;T)
Make rs794727511(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position33963723
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs794727511
ebirs794727511
HLIrs794727511
Exacrs794727511
Varsomers794727511
Maprs794727511
PheGenIrs794727511
hapmaprs794727511
1000 genomesrs794727511
hgdprs794727511
ensemblrs794727511
gopubmedrs794727511
geneviewrs794727511
scholarrs794727511
googlers794727511
pharmgkbrs794727511
gwascentralrs794727511
openSNPrs794727511
23andMers794727511
23andMe allrs794727511
SNP Nexus

SNPshotrs794727511
SNPdbers794727511
MSV3drs794727511
GWAS Ctlgrs794727511
Max Magnitude0
ClinVar
Risk rs794727511(T;T)
Alt rs794727511(T;T)
Reference rs794727511(C;C)
Significance Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 1
HGVS NC_000005.9:g.33963828G>A
CLNSRC
CLNACC RCV000177291.1,