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rs797045839

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045839(A;A)
Make rs797045839(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position27845047
GeneOCA2
is asnp
is mentioned by
dbSNPrs797045839
dbSNP (classic)rs797045839
ClinGenrs797045839
ebirs797045839
HLIrs797045839
Exacrs797045839
Gnomadrs797045839
Varsomers797045839
LitVarrs797045839
Maprs797045839
PheGenIrs797045839
Biobankrs797045839
1000 genomesrs797045839
hgdprs797045839
ensemblrs797045839
geneviewrs797045839
scholarrs797045839
googlers797045839
pharmgkbrs797045839
gwascentralrs797045839
openSNPrs797045839
23andMers797045839
SNPshotrs797045839
SNPdbers797045839
MSV3drs797045839
GWAS Ctlgrs797045839
Max Magnitude0
ClinVar
Risk rs797045839(A;A)
Alt rs797045839(A;A)
Reference Rs797045839(G;G)
Significance Probable-Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28090193C>T
CLNSRC
CLNACC RCV000193498.1,