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rs749544685

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs749544685(A;G)
Make rs749544685(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position33944787
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs749544685
ebirs749544685
HLIrs749544685
Exacrs749544685
Varsomers749544685
Maprs749544685
PheGenIrs749544685
hapmaprs749544685
1000 genomesrs749544685
hgdprs749544685
ensemblrs749544685
gopubmedrs749544685
geneviewrs749544685
scholarrs749544685
googlers749544685
pharmgkbrs749544685
gwascentralrs749544685
openSNPrs749544685
23andMers749544685
23andMe allrs749544685
SNP Nexus

SNPshotrs749544685
SNPdbers749544685
MSV3drs749544685
GWAS Ctlgrs749544685
Max Magnitude0
ClinVar
Risk rs749544685(G;G)
Alt rs749544685(G;G)
Reference rs749544685(A;A)
Significance Probable-Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 0
HGVS NC_000005.9:g.33944892A>G
CLNSRC
CLNACC RCV000199265.1,