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rs774122562

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs774122562(A;A)
Make rs774122562(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position55721469
GeneBLOC1S1-RDH5, RDH5
is asnp
is mentioned by
dbSNPrs774122562
ebirs774122562
HLIrs774122562
Exacrs774122562
Varsomers774122562
Maprs774122562
PheGenIrs774122562
hapmaprs774122562
1000 genomesrs774122562
hgdprs774122562
ensemblrs774122562
gopubmedrs774122562
geneviewrs774122562
scholarrs774122562
googlers774122562
pharmgkbrs774122562
gwascentralrs774122562
openSNPrs774122562
23andMers774122562
23andMe allrs774122562
SNP Nexus

SNPshotrs774122562
SNPdbers774122562
MSV3drs774122562
GWAS Ctlgrs774122562
Max Magnitude0
ClinVar
Risk rs774122562(A;A)
Alt rs774122562(A;A)
Reference rs774122562(G;G)
Significance Pathogenic
Disease Pigmentary retinal dystrophy
Variation info
Gene RDH5 BLOC1S1-RDH5
CLNDBN Pigmentary retinal dystrophy
Reversed 0
HGVS NC_000012.11:g.56115253G>A
CLNSRC
CLNACC RCV000190620.1,