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rs878853243

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853243(G;T)
Make rs878853243(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position120806619
GeneTSPAN12
is asnp
is mentioned by
dbSNPrs878853243
ebirs878853243
HLIrs878853243
Exacrs878853243
Varsomers878853243
Maprs878853243
PheGenIrs878853243
hapmaprs878853243
1000 genomesrs878853243
hgdprs878853243
ensemblrs878853243
gopubmedrs878853243
geneviewrs878853243
scholarrs878853243
googlers878853243
pharmgkbrs878853243
gwascentralrs878853243
openSNPrs878853243
23andMers878853243
23andMe allrs878853243
SNP Nexus

SNPshotrs878853243
SNPdbers878853243
MSV3drs878853243
GWAS Ctlgrs878853243
Max Magnitude0
ClinVar
Risk rs878853243(T;T)
Alt rs878853243(T;T)
Reference rs878853243(G;G)
Significance Pathogenic
Disease Atrophia bulborum hereditaria Exudative vitreoretinopathy 5 Persistent hyperplastic primary vitreous
Variation info
Gene TSPAN12
CLNDBN Atrophia bulborum hereditaria Exudative vitreoretinopathy 5 Persistent hyperplastic primary vitreous, autosomal recessive
Reversed 1
HGVS NC_000007.13:g.120446673C>A
CLNSRC
CLNACC RCV000225020.1, RCV000225062.1, RCV000225079.1,