Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906561

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906561(-;-)
Make rs387906561(-;T)
ReferenceGRCh37.p10 37.5/138
Chromosome9
Position12694103
GeneTYRP1
is asnp
is mentioned by
dbSNPrs387906561
dbSNP (classic)rs387906561
ClinGenrs387906561
ebirs387906561
HLIrs387906561
Exacrs387906561
Gnomadrs387906561
Varsomers387906561
LitVarrs387906561
Maprs387906561
PheGenIrs387906561
Biobankrs387906561
1000 genomesrs387906561
hgdprs387906561
ensemblrs387906561
geneviewrs387906561
scholarrs387906561
googlers387906561
pharmgkbrs387906561
gwascentralrs387906561
openSNPrs387906561
23andMers387906561
SNPshotrs387906561
SNPdbers387906561
MSV3drs387906561
GWAS Ctlgrs387906561
Max Magnitude0
ClinVar
Risk rs387906561(-;-)
Alt rs387906561(-;-)
Reference Rs387906561(T;T)
Significance Pathogenic
Disease Oculocutaneous albinism type 3
Variation info
Gene TYRP1
CLNDBN Oculocutaneous albinism type 3
Reversed 0
HGVS NC_000009.11:g.12694103delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000019163.28,