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rs104893795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893795(C;C)
Make rs104893795(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position129533704
GeneRHO
is asnp
is mentioned by
dbSNPrs104893795
dbSNP (classic)rs104893795
ClinGenrs104893795
ebirs104893795
HLIrs104893795
Exacrs104893795
Gnomadrs104893795
Varsomers104893795
LitVarrs104893795
Maprs104893795
PheGenIrs104893795
Biobankrs104893795
1000 genomesrs104893795
hgdprs104893795
ensemblrs104893795
geneviewrs104893795
scholarrs104893795
googlers104893795
pharmgkbrs104893795
gwascentralrs104893795
openSNPrs104893795
23andMers104893795
SNPshotrs104893795
SNPdbers104893795
MSV3drs104893795
GWAS Ctlgrs104893795
Max Magnitude0
OMIM180380
Desc
Variant0044
Relatedalso
OMIM180380
Desc
Variant0040
Relatedalso
ClinVar
Risk rs104893795(A;A) rs104893795(C;C)
Alt rs104893795(A;A) rs104893795(C;C)
Reference Rs104893795(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 4
Variation info
Gene RHO
CLNDBN Retinitis pigmentosa 4
Reversed 0
HGVS NC_000003.11:g.129252547G>A; NC_000003.11:g.129252547G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013931.23, RCV000013927.23,