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rs794727139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727139(A;A)
Make rs794727139(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position149884779
GenePDE6A
is asnp
is mentioned by
dbSNPrs794727139
dbSNP (classic)rs794727139
ClinGenrs794727139
ebirs794727139
HLIrs794727139
Exacrs794727139
Gnomadrs794727139
Varsomers794727139
LitVarrs794727139
Maprs794727139
PheGenIrs794727139
Biobankrs794727139
1000 genomesrs794727139
hgdprs794727139
ensemblrs794727139
geneviewrs794727139
scholarrs794727139
googlers794727139
pharmgkbrs794727139
gwascentralrs794727139
openSNPrs794727139
23andMers794727139
SNPshotrs794727139
SNPdbers794727139
MSV3drs794727139
GWAS Ctlgrs794727139
Max Magnitude0
ClinVar
Risk rs794727139(A;A)
Alt rs794727139(A;A)
Reference Rs794727139(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 43
Variation info
Gene PDE6A
CLNDBN Retinitis pigmentosa 43
Reversed 1
HGVS NC_000005.9:g.149264342C>T
CLNSRC
CLNACC RCV000174847.1,