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rs587777283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777283(C;C)
Make rs587777283(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position120810518
GeneTSPAN12
is asnp
is mentioned by
dbSNPrs587777283
ebirs587777283
HLIrs587777283
Exacrs587777283
Varsomers587777283
Maprs587777283
PheGenIrs587777283
hapmaprs587777283
1000 genomesrs587777283
hgdprs587777283
ensemblrs587777283
gopubmedrs587777283
geneviewrs587777283
scholarrs587777283
googlers587777283
pharmgkbrs587777283
gwascentralrs587777283
openSNPrs587777283
23andMers587777283
23andMe allrs587777283
SNP Nexus

SNPshotrs587777283
SNPdbers587777283
MSV3drs587777283
GWAS Ctlgrs587777283
Max Magnitude0
ClinVar
Risk rs587777283(C;C)
Alt rs587777283(C;C)
Reference rs587777283(T;T)
Significance Pathogenic
Disease Exudative vitreoretinopathy 5
Variation info
Gene TSPAN12
CLNDBN Exudative vitreoretinopathy 5
Reversed 0
HGVS NC_000007.13:g.120450572T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000114398.2,