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rs387906317

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906317(-;-)
Make rs387906317(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position33954407
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs387906317
ebirs387906317
HLIrs387906317
Exacrs387906317
Varsomers387906317
Maprs387906317
PheGenIrs387906317
hapmaprs387906317
1000 genomesrs387906317
hgdprs387906317
ensemblrs387906317
gopubmedrs387906317
geneviewrs387906317
scholarrs387906317
googlers387906317
pharmgkbrs387906317
gwascentralrs387906317
openSNPrs387906317
23andMers387906317
23andMe allrs387906317
SNP Nexus

SNPshotrs387906317
SNPdbers387906317
MSV3drs387906317
GWAS Ctlgrs387906317
Max Magnitude0
ClinVar
Risk rs387906317(;)
Alt rs387906317(;)
Reference rs387906317(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.33954512delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004758.4,