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rs1057519489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519489(A;A)
Make rs1057519489(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position110618293
GenePITX2
is asnp
is mentioned by
dbSNPrs1057519489
dbSNP (old)rs1057519489
ClinGenrs1057519489
ebirs1057519489
HLIrs1057519489
Exacrs1057519489
Gnomadrs1057519489
Varsomers1057519489
LitVarrs1057519489
Maprs1057519489
PheGenIrs1057519489
Biobankrs1057519489
1000 genomesrs1057519489
hgdprs1057519489
ensemblrs1057519489
gopubmedrs1057519489
geneviewrs1057519489
scholarrs1057519489
googlers1057519489
pharmgkbrs1057519489
gwascentralrs1057519489
openSNPrs1057519489
23andMers1057519489
23andMe allrs1057519489
SNPshotrs1057519489
SNPdbers1057519489
MSV3drs1057519489
GWAS Ctlgrs1057519489
Max Magnitude0
ClinVar
Risk rs1057519489(A;A)
Alt rs1057519489(A;A)
Reference Rs1057519489(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.111539449A>T
CLNSRC
CLNACC RCV000416518.1,