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rs147394623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs147394623(A;G)
Make rs147394623(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position26438228
GeneDHDDS
is asnp
is mentioned by
dbSNPrs147394623
ebirs147394623
HLIrs147394623
Exacrs147394623
Varsomers147394623
Maprs147394623
PheGenIrs147394623
hapmaprs147394623
1000 genomesrs147394623
hgdprs147394623
ensemblrs147394623
gopubmedrs147394623
geneviewrs147394623
scholarrs147394623
googlers147394623
pharmgkbrs147394623
gwascentralrs147394623
openSNPrs147394623
23andMers147394623
23andMe allrs147394623
SNP Nexus

SNPshotrs147394623
SNPdbers147394623
MSV3drs147394623
GWAS Ctlgrs147394623
Max Magnitude0
ClinVar
Risk rs147394623(G;G)
Alt rs147394623(G;G)
Reference rs147394623(A;A)
Significance Pathogenic
Disease Retinitis pigmentosa 59
Variation info
Gene DHDDS
CLNDBN Retinitis pigmentosa 59
Reversed 0
HGVS NC_000001.10:g.26764719A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023687.3,