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rs606231140

From SNPedia

Merged intors61754368
Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs606231140(-;-)
Make rs606231140(-;TG)
Make rs606231140(TG;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position89178685
GeneTYR
is asnp
is mentioned by
dbSNPrs606231140
dbSNP (classic)rs606231140
ClinGenrs606231140
ebirs606231140
HLIrs606231140
Exacrs606231140
Gnomadrs606231140
Varsomers606231140
LitVarrs606231140
Maprs606231140
PheGenIrs606231140
Biobankrs606231140
1000 genomesrs606231140
hgdprs606231140
ensemblrs606231140
geneviewrs606231140
scholarrs606231140
googlers606231140
pharmgkbrs606231140
gwascentralrs606231140
openSNPrs606231140
23andMers606231140
SNPshotrs606231140
SNPdbers606231140
MSV3drs606231140
GWAS Ctlgrs606231140
StatusMerged into rs61754368
Max Magnitude0
ClinVar
Risk rs606231140(TACAGCACA;TACAGCACA) rs606231140(TTG;TTG)
Alt rs606231140(TACAGCACA;TACAGCACA) rs606231140(TTG;TTG)
Reference Rs606231140(GT;GT)
Significance Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism not provided
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism not provided
Reversed 0
HGVS NC_000011.9:g.88911853_88911854delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003990.2, RCV000085968.1,