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rs185504549

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs185504549(A;A)
Make rs185504549(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position28014775
GeneOCA2
is asnp
is mentioned by
dbSNPrs185504549
ebirs185504549
HLIrs185504549
Exacrs185504549
Varsomers185504549
Maprs185504549
PheGenIrs185504549
hapmaprs185504549
1000 genomesrs185504549
hgdprs185504549
ensemblrs185504549
gopubmedrs185504549
geneviewrs185504549
scholarrs185504549
googlers185504549
pharmgkbrs185504549
gwascentralrs185504549
openSNPrs185504549
23andMers185504549
23andMe allrs185504549
SNP Nexus

SNPshotrs185504549
SNPdbers185504549
MSV3drs185504549
GWAS Ctlgrs185504549
Max Magnitude0
ClinVar
Risk rs185504549(A;A)
Alt rs185504549(A;A)
Reference rs185504549(C;C)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 0
HGVS NC_000015.9:g.28259921C>A
CLNSRC
CLNACC RCV000234803.1,