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rs104893770

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893770(C;C)
Make rs104893770(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position129528866
GeneRHO
is asnp
is mentioned by
dbSNPrs104893770
ebirs104893770
HLIrs104893770
Exacrs104893770
Varsomers104893770
Maprs104893770
PheGenIrs104893770
hapmaprs104893770
1000 genomesrs104893770
hgdprs104893770
ensemblrs104893770
gopubmedrs104893770
geneviewrs104893770
scholarrs104893770
googlers104893770
pharmgkbrs104893770
gwascentralrs104893770
openSNPrs104893770
23andMers104893770
23andMe allrs104893770
SNP Nexus

SNPshotrs104893770
SNPdbers104893770
MSV3drs104893770
GWAS Ctlgrs104893770
GMAF0.0004591
Max Magnitude0
OMIM180380
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104893770(C;C)
Alt rs104893770(C;C)
Reference Rs104893770(T;T)
Significance Pathogenic
Disease Retinitis pigmentosa 4
Variation info
Gene RHO
CLNDBN Retinitis pigmentosa 4
Reversed 0
HGVS NC_000003.11:g.129247709T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013893.23,