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rs121909249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909249(C;C)
Make rs121909249(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position110621169
GenePITX2
is asnp
is mentioned by
dbSNPrs121909249
ebirs121909249
HLIrs121909249
Exacrs121909249
Varsomers121909249
Maprs121909249
PheGenIrs121909249
hapmaprs121909249
1000 genomesrs121909249
hgdprs121909249
ensemblrs121909249
gopubmedrs121909249
geneviewrs121909249
scholarrs121909249
googlers121909249
pharmgkbrs121909249
gwascentralrs121909249
openSNPrs121909249
23andMers121909249
23andMe allrs121909249
SNP Nexus

SNPshotrs121909249
SNPdbers121909249
MSV3drs121909249
GWAS Ctlgrs121909249
Max Magnitude0
OMIM601542
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909249(C;C)
Alt rs121909249(C;C)
Reference rs121909249(G;G)
Significance Pathogenic
Disease Axenfeld-Rieger syndrome type 1
Variation info
Gene PITX2
CLNDBN Axenfeld-Rieger syndrome type 1
Reversed 1
HGVS NC_000004.11:g.111542325C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008560.2,