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rs387906318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs387906318(-;-)
Make rs387906318(-;TTC)
Make rs387906318(TTC;TTC)
ReferenceGRCh38 38.1/141
Chromosome5
Position33963916
GeneSLC45A2
is asnp
is mentioned by
dbSNPrs387906318
ebirs387906318
HLIrs387906318
Exacrs387906318
Varsomers387906318
Maprs387906318
PheGenIrs387906318
hapmaprs387906318
1000 genomesrs387906318
hgdprs387906318
ensemblrs387906318
gopubmedrs387906318
geneviewrs387906318
scholarrs387906318
googlers387906318
pharmgkbrs387906318
gwascentralrs387906318
openSNPrs387906318
23andMers387906318
23andMe allrs387906318
SNP Nexus

SNPshotrs387906318
SNPdbers387906318
MSV3drs387906318
GWAS Ctlgrs387906318
Max Magnitude0
ClinVar
Risk rs387906318(;)
Alt rs387906318(;)
Reference rs387906318(TCT;TCT)
Significance Pathogenic
Disease Oculocutaneous albinism type 4
Variation info
Gene SLC45A2
CLNDBN Oculocutaneous albinism type 4
Reversed 1
HGVS NC_000005.9:g.33964021_33964023delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004759.3,