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rs797044784

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGG;CTGG) 0 common in clinvar
Make rs797044784(CTGG;GGTC)
Make rs797044784(GGTC;GGTC)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position28016172
GeneOCA2
is asnp
is mentioned by
dbSNPrs797044784
ClinGenrs797044784
ebirs797044784
HLIrs797044784
Exacrs797044784
Varsomers797044784
Maprs797044784
PheGenIrs797044784
hapmaprs797044784
1000 genomesrs797044784
hgdprs797044784
ensemblrs797044784
gopubmedrs797044784
geneviewrs797044784
scholarrs797044784
googlers797044784
pharmgkbrs797044784
gwascentralrs797044784
openSNPrs797044784
23andMers797044784
23andMe allrs797044784
SNP Nexus

SNPshotrs797044784
SNPdbers797044784
MSV3drs797044784
GWAS Ctlgrs797044784
Max Magnitude0
ClinVar
Risk rs797044784(GGTC;GGTC)
Alt rs797044784(GGTC;GGTC)
Reference Rs797044784(CTGG;CTGG)
Significance Pathogenic
Disease Tyrosinase-positive oculocutaneous albinism not specified
Variation info
Gene OCA2
CLNDBN Tyrosinase-positive oculocutaneous albinism not specified
Reversed 1
HGVS NC_000015.9:g.28261318_28261321delCCAGinsGACC
CLNSRC
CLNACC RCV000180125.1, RCV000486337.1,