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rs104893861

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893861(A;A)
Make rs104893861(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position110621210
GenePITX2
is asnp
is mentioned by
dbSNPrs104893861
ebirs104893861
HLIrs104893861
Exacrs104893861
Varsomers104893861
Maprs104893861
PheGenIrs104893861
hapmaprs104893861
1000 genomesrs104893861
hgdprs104893861
ensemblrs104893861
gopubmedrs104893861
geneviewrs104893861
scholarrs104893861
googlers104893861
pharmgkbrs104893861
gwascentralrs104893861
openSNPrs104893861
23andMers104893861
23andMe allrs104893861
SNP Nexus

SNPshotrs104893861
SNPdbers104893861
MSV3drs104893861
GWAS Ctlgrs104893861
Max Magnitude0
OMIM601542
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104893861(A;A)
Alt rs104893861(A;A)
Reference rs104893861(G;G)
Significance Pathogenic
Disease Iridogoniodysgenesis
Variation info
Gene PITX2
CLNDBN Iridogoniodysgenesis, dominant type
Reversed 1
HGVS NC_000004.11:g.111542366C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008558.3,