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rs797045838

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797045838(A;T)
Make rs797045838(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position27926194
GeneOCA2
is asnp
is mentioned by
dbSNPrs797045838
ebirs797045838
HLIrs797045838
Exacrs797045838
Varsomers797045838
Maprs797045838
PheGenIrs797045838
hapmaprs797045838
1000 genomesrs797045838
hgdprs797045838
ensemblrs797045838
gopubmedrs797045838
geneviewrs797045838
scholarrs797045838
googlers797045838
pharmgkbrs797045838
gwascentralrs797045838
openSNPrs797045838
23andMers797045838
23andMe allrs797045838
SNP Nexus

SNPshotrs797045838
SNPdbers797045838
MSV3drs797045838
GWAS Ctlgrs797045838
Max Magnitude0
ClinVar
Risk rs797045838(T;T)
Alt rs797045838(T;T)
Reference rs797045838(A;A)
Significance Probable-Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28171340T>A
CLNSRC
CLNACC RCV000194788.1,