Have questions? Visit https://www.reddit.com/r/SNPedia

rs74653330

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74653330(A;A)
Make rs74653330(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position27983407
GeneOCA2
is asnp
is mentioned by
dbSNPrs74653330
ebirs74653330
HLIrs74653330
Exacrs74653330
Varsomers74653330
Maprs74653330
PheGenIrs74653330
hapmaprs74653330
1000 genomesrs74653330
hgdprs74653330
ensemblrs74653330
gopubmedrs74653330
geneviewrs74653330
scholarrs74653330
googlers74653330
pharmgkbrs74653330
gwascentralrs74653330
openSNPrs74653330
23andMers74653330
23andMe allrs74653330
SNP Nexus

SNPshotrs74653330
SNPdbers74653330
MSV3drs74653330
GWAS Ctlgrs74653330
GMAF0.01515
Max Magnitude0
OMIM611409
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74653330(A;A)
Alt rs74653330(A;A)
Reference rs74653330(G;G)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism
Reversed 1
HGVS NC_000015.9:g.28228553C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001005.3,