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rs121909248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909248(C;T)
Make rs121909248(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position110621166
GenePITX2
is asnp
is mentioned by
dbSNPrs121909248
ebirs121909248
HLIrs121909248
Exacrs121909248
Varsomers121909248
Maprs121909248
PheGenIrs121909248
hapmaprs121909248
1000 genomesrs121909248
hgdprs121909248
ensemblrs121909248
gopubmedrs121909248
geneviewrs121909248
scholarrs121909248
googlers121909248
pharmgkbrs121909248
gwascentralrs121909248
openSNPrs121909248
23andMers121909248
23andMe allrs121909248
SNP Nexus

SNPshotrs121909248
SNPdbers121909248
MSV3drs121909248
GWAS Ctlgrs121909248
Max Magnitude0
OMIM601542
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909248(T;T)
Alt rs121909248(T;T)
Reference rs121909248(C;C)
Significance Pathogenic
Disease Iridogoniodysgenesis
Variation info
Gene PITX2
CLNDBN Iridogoniodysgenesis, dominant type
Reversed 1
HGVS NC_000004.11:g.111542322G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008557.2,