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rs104893858

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104893858(A;C)
Make rs104893858(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position110621214
GenePITX2
is asnp
is mentioned by
dbSNPrs104893858
ebirs104893858
HLIrs104893858
Exacrs104893858
Varsomers104893858
Maprs104893858
PheGenIrs104893858
hapmaprs104893858
1000 genomesrs104893858
hgdprs104893858
ensemblrs104893858
gopubmedrs104893858
geneviewrs104893858
scholarrs104893858
googlers104893858
pharmgkbrs104893858
gwascentralrs104893858
openSNPrs104893858
23andMers104893858
23andMe allrs104893858
SNP Nexus

SNPshotrs104893858
SNPdbers104893858
MSV3drs104893858
GWAS Ctlgrs104893858
Max Magnitude0
OMIM601542
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104893858(C;C)
Alt rs104893858(C;C)
Reference rs104893858(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.111542370T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008553.2,