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rs104893857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893857(A;A)
Make rs104893857(A;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position110621255
GenePITX2
is asnp
is mentioned by
dbSNPrs104893857
ebirs104893857
HLIrs104893857
Exacrs104893857
Varsomers104893857
Maprs104893857
PheGenIrs104893857
hapmaprs104893857
1000 genomesrs104893857
hgdprs104893857
ensemblrs104893857
gopubmedrs104893857
geneviewrs104893857
scholarrs104893857
googlers104893857
pharmgkbrs104893857
gwascentralrs104893857
openSNPrs104893857
23andMers104893857
23andMe allrs104893857
SNP Nexus

SNPshotrs104893857
SNPdbers104893857
MSV3drs104893857
GWAS Ctlgrs104893857
Max Magnitude0
OMIM601542
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893857(A;A)
Alt rs104893857(A;A)
Reference rs104893857(T;T)
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.111542411A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008551.2,