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rs387906560

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906560(-;-)
Make rs387906560(-;A)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position12704547
GeneLURAP1L-AS1, TYRP1
is asnp
is mentioned by
dbSNPrs387906560
dbSNP (classic)rs387906560
ClinGenrs387906560
ebirs387906560
HLIrs387906560
Exacrs387906560
Gnomadrs387906560
Varsomers387906560
LitVarrs387906560
Maprs387906560
PheGenIrs387906560
Biobankrs387906560
1000 genomesrs387906560
hgdprs387906560
ensemblrs387906560
geneviewrs387906560
scholarrs387906560
googlers387906560
pharmgkbrs387906560
gwascentralrs387906560
openSNPrs387906560
23andMers387906560
SNPshotrs387906560
SNPdbers387906560
MSV3drs387906560
GWAS Ctlgrs387906560
Max Magnitude0
ClinVar
Risk rs387906560(-;-)
Alt rs387906560(-;-)
Reference Rs387906560(A;A)
Significance Pathogenic
Disease Oculocutaneous albinism type 3
Variation info
Gene TYRP1 LURAP1L-AS1
CLNDBN Oculocutaneous albinism type 3
Reversed 0
HGVS NC_000009.11:g.12704547delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000019158.29,