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rs387906810

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906810(A;G)
Make rs387906810(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position110618679
GenePITX2
is asnp
is mentioned by
dbSNPrs387906810
ebirs387906810
HLIrs387906810
Exacrs387906810
Varsomers387906810
Maprs387906810
PheGenIrs387906810
hapmaprs387906810
1000 genomesrs387906810
hgdprs387906810
ensemblrs387906810
gopubmedrs387906810
geneviewrs387906810
scholarrs387906810
googlers387906810
pharmgkbrs387906810
gwascentralrs387906810
openSNPrs387906810
23andMers387906810
23andMe allrs387906810
SNP Nexus

SNPshotrs387906810
SNPdbers387906810
MSV3drs387906810
GWAS Ctlgrs387906810
Max Magnitude0
ClinVar
Risk rs387906810(G;G)
Alt rs387906810(G;G)
Reference rs387906810(A;A)
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.111539835T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023116.2,