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rs587777284

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777284(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position120840110
GeneTSPAN12
is asnp
is mentioned by
dbSNPrs587777284
dbSNP (classic)rs587777284
ClinGenrs587777284
ebirs587777284
HLIrs587777284
Exacrs587777284
Gnomadrs587777284
Varsomers587777284
LitVarrs587777284
Maprs587777284
PheGenIrs587777284
Biobankrs587777284
1000 genomesrs587777284
hgdprs587777284
ensemblrs587777284
geneviewrs587777284
scholarrs587777284
googlers587777284
pharmgkbrs587777284
gwascentralrs587777284
openSNPrs587777284
23andMers587777284
SNPshotrs587777284
SNPdbers587777284
MSV3drs587777284
GWAS Ctlgrs587777284
Max Magnitude0
ClinVar
Risk Rs587777284(C;C)
Alt Rs587777284(C;C)
Reference Rs587777284(G;G)
Significance Pathogenic
Disease Exudative vitreoretinopathy 5
Variation info
Gene TSPAN12
CLNDBN Exudative vitreoretinopathy 5
Reversed 1
HGVS NC_000007.13:g.120480164C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000114399.3,