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rs775387808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs775387808(-;-)
Make rs775387808(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position33984320
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs775387808
dbSNP (classic)rs775387808
ClinGenrs775387808
ebirs775387808
HLIrs775387808
Exacrs775387808
Gnomadrs775387808
Varsomers775387808
LitVarrs775387808
Maprs775387808
PheGenIrs775387808
Biobankrs775387808
1000 genomesrs775387808
hgdprs775387808
ensemblrs775387808
geneviewrs775387808
scholarrs775387808
googlers775387808
pharmgkbrs775387808
gwascentralrs775387808
openSNPrs775387808
23andMers775387808
SNPshotrs775387808
SNPdbers775387808
MSV3drs775387808
GWAS Ctlgrs775387808
Max Magnitude0
ClinVar
Risk rs775387808(-;-)
Alt rs775387808(-;-)
Reference Rs775387808(G;G)
Significance Probable-Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 0
HGVS NC_000005.9:g.33984425delG
CLNSRC
CLNACC RCV000199265.1,