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

rs104893791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893791(A;A)
Make rs104893791(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129530962
GeneRHO
is asnp
is mentioned by
dbSNPrs104893791
dbSNP (classic)rs104893791
ClinGenrs104893791
ebirs104893791
HLIrs104893791
Exacrs104893791
Gnomadrs104893791
Varsomers104893791
LitVarrs104893791
Maprs104893791
PheGenIrs104893791
Biobankrs104893791
1000 genomesrs104893791
hgdprs104893791
ensemblrs104893791
geneviewrs104893791
scholarrs104893791
googlers104893791
pharmgkbrs104893791
gwascentralrs104893791
openSNPrs104893791
23andMers104893791
SNPshotrs104893791
SNPdbers104893791
MSV3drs104893791
GWAS Ctlgrs104893791
Max Magnitude0
OMIM180380
Desc
Variant0033
Relatedalso
ClinVar
Risk rs104893791(A;A) rs104893791(C;C)
Alt rs104893791(A;A) rs104893791(C;C)
Reference Rs104893791(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 4
Variation info
Gene RHO
CLNDBN Retinitis pigmentosa 4, autosomal recessive
Reversed 0
HGVS NC_000003.11:g.129249805G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013921.24,