Have questions? Visit https://www.reddit.com/r/SNPedia

rs538591733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs538591733(A;A)
Make rs538591733(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position120840030
GeneTSPAN12
is asnp
is mentioned by
dbSNPrs538591733
ClinGenrs538591733
ebirs538591733
HLIrs538591733
Exacrs538591733
Varsomers538591733
Maprs538591733
PheGenIrs538591733
hapmaprs538591733
1000 genomesrs538591733
hgdprs538591733
ensemblrs538591733
gopubmedrs538591733
geneviewrs538591733
scholarrs538591733
googlers538591733
pharmgkbrs538591733
gwascentralrs538591733
openSNPrs538591733
23andMers538591733
23andMe allrs538591733
SNP Nexus

SNPshotrs538591733
SNPdbers538591733
MSV3drs538591733
GWAS Ctlgrs538591733
Max Magnitude0
ClinVar
Risk rs538591733(A;A) rs538591733(T;T)
Alt rs538591733(A;A) rs538591733(T;T)
Reference Rs538591733(G;G)
Significance Pathogenic
Disease Exudative vitreoretinopathy 5
Variation info
Gene TSPAN12
CLNDBN Exudative vitreoretinopathy 5
Reversed 0
HGVS NC_000007.13:g.120480084G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114400.4,