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rs869312183

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312183(C;T)
Make rs869312183(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position32541986
GeneTOPORS
is asnp
is mentioned by
dbSNPrs869312183
ebirs869312183
HLIrs869312183
Exacrs869312183
Varsomers869312183
Maprs869312183
PheGenIrs869312183
hapmaprs869312183
1000 genomesrs869312183
hgdprs869312183
ensemblrs869312183
gopubmedrs869312183
geneviewrs869312183
scholarrs869312183
googlers869312183
pharmgkbrs869312183
gwascentralrs869312183
openSNPrs869312183
23andMers869312183
23andMe allrs869312183
SNP Nexus

SNPshotrs869312183
SNPdbers869312183
MSV3drs869312183
GWAS Ctlgrs869312183
Max Magnitude0
ClinVar
Risk rs869312183(T;T)
Alt rs869312183(T;T)
Reference rs869312183(C;C)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene TOPORS
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000009.11:g.32541984G>A
CLNSRC
CLNACC RCV000210308.1,