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rs104893859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893859(C;C)
Make rs104893859(C;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position110618669
GenePITX2
is asnp
is mentioned by
dbSNPrs104893859
ebirs104893859
HLIrs104893859
Exacrs104893859
Varsomers104893859
Maprs104893859
PheGenIrs104893859
hapmaprs104893859
1000 genomesrs104893859
hgdprs104893859
ensemblrs104893859
gopubmedrs104893859
geneviewrs104893859
scholarrs104893859
googlers104893859
pharmgkbrs104893859
gwascentralrs104893859
openSNPrs104893859
23andMers104893859
23andMe allrs104893859
SNP Nexus

SNPshotrs104893859
SNPdbers104893859
MSV3drs104893859
GWAS Ctlgrs104893859
Max Magnitude0
OMIM601542
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893859(C;C)
Alt rs104893859(C;C)
Reference rs104893859(G;G)
Significance Pathogenic
Disease Axenfeld-Rieger syndrome type 1 not provided
Variation info
Gene PITX2
CLNDBN Axenfeld-Rieger syndrome type 1 not provided
Reversed 1
HGVS NC_000004.11:g.111539825C>G; NC_000004.11:g.111539825C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008555.2, RCV000179024.1,