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rs200519776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200519776(A;G)
Make rs200519776(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position120788776
GeneTSPAN12
is asnp
is mentioned by
dbSNPrs200519776
ebirs200519776
HLIrs200519776
Exacrs200519776
Varsomers200519776
Maprs200519776
PheGenIrs200519776
hapmaprs200519776
1000 genomesrs200519776
hgdprs200519776
ensemblrs200519776
gopubmedrs200519776
geneviewrs200519776
scholarrs200519776
googlers200519776
pharmgkbrs200519776
gwascentralrs200519776
openSNPrs200519776
23andMers200519776
23andMe allrs200519776
SNP Nexus

SNPshotrs200519776
SNPdbers200519776
MSV3drs200519776
GWAS Ctlgrs200519776
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs200519776(G;G)
Alt rs200519776(G;G)
Reference Rs200519776(A;A)
Significance Pathogenic
Disease Exudative vitreoretinopathy 5
Variation info
Gene TSPAN12
CLNDBN Exudative vitreoretinopathy 5
Reversed 0
HGVS NC_000007.13:g.120428830A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023997.4,