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rs6533526

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs6533526(A;A)
Make rs6533526(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position110617671
GenePITX2
is asnp
is mentioned by
dbSNPrs6533526
dbSNP (classic)rs6533526
ClinGenrs6533526
ebirs6533526
HLIrs6533526
Exacrs6533526
Gnomadrs6533526
Varsomers6533526
LitVarrs6533526
Maprs6533526
PheGenIrs6533526
Biobankrs6533526
1000 genomesrs6533526
hgdprs6533526
ensemblrs6533526
geneviewrs6533526
scholarrs6533526
googlers6533526
pharmgkbrs6533526
gwascentralrs6533526
openSNPrs6533526
23andMers6533526
SNPshotrs6533526
SNPdbers6533526
MSV3drs6533526
GWAS Ctlgrs6533526
Max Magnitude0
? (A;A) (A;G) (G;G) 28


ClinVar
Risk rs6533526(A;A)
Alt rs6533526(A;A)
Reference Rs6533526(G;G)
Significance Pathogenic
Disease not provided Anterior segment mesenchymal dysgenesis Axenfeld-Rieger Syndrome PITX2-Related Eye Abnormalities Iridogoniodysgenesis Cataract Ring dermoid of cornea Peters anomaly
Variation info
Gene PITX2
CLNDBN not provided Anterior segment mesenchymal dysgenesis Axenfeld-Rieger Syndrome PITX2-Related Eye Abnormalities Iridogoniodysgenesis, dominant type Cataract Ring dermoid of cornea Peters anomaly
Reversed 0
HGVS NC_000004.11:g.111538827G>A
CLNSRC
CLNACC RCV000162087.1, RCV000290152.1, RCV000293383.1, RCV000347493.1, RCV000350621.1, RCV000382147.1, RCV000385721.1, RCV000392643.1,