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rs796051879

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CATGGTT;CATGGTT) 0 common in clinvar
Make rs796051879(-;-)
Make rs796051879(-;ATGGTTC)
Make rs796051879(ATGGTTC;ATGGTTC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position89284864
GeneLOC107984363, TYR
is asnp
is mentioned by
dbSNPrs796051879
dbSNP (classic)rs796051879
ClinGenrs796051879
ebirs796051879
HLIrs796051879
Exacrs796051879
Gnomadrs796051879
Varsomers796051879
LitVarrs796051879
Maprs796051879
PheGenIrs796051879
Biobankrs796051879
1000 genomesrs796051879
hgdprs796051879
ensemblrs796051879
geneviewrs796051879
scholarrs796051879
googlers796051879
pharmgkbrs796051879
gwascentralrs796051879
openSNPrs796051879
23andMers796051879
SNPshotrs796051879
SNPdbers796051879
MSV3drs796051879
GWAS Ctlgrs796051879
Max Magnitude0
ClinVar
Risk rs796051879(-;-)
Alt rs796051879(-;-)
Reference Rs796051879(CATGGTT;CATGGTT)
Significance Probable-Pathogenic
Disease Tyrosinase-negative oculocutaneous albinism
Variation info
Gene TYR
CLNDBN Tyrosinase-negative oculocutaneous albinism
Reversed 0
HGVS NC_000011.9:g.89018032_89018038delATGGTTC
CLNSRC
CLNACC RCV000186573.1,