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rs1057519484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519484(C;T)
Make rs1057519484(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position110621225
GenePITX2
is asnp
is mentioned by
dbSNPrs1057519484
dbSNP (classic)rs1057519484
ClinGenrs1057519484
ebirs1057519484
HLIrs1057519484
Exacrs1057519484
Gnomadrs1057519484
Varsomers1057519484
LitVarrs1057519484
Maprs1057519484
PheGenIrs1057519484
Biobankrs1057519484
1000 genomesrs1057519484
hgdprs1057519484
ensemblrs1057519484
geneviewrs1057519484
scholarrs1057519484
googlers1057519484
pharmgkbrs1057519484
gwascentralrs1057519484
openSNPrs1057519484
23andMers1057519484
23andMe allrs1057519484
SNPshotrs1057519484
SNPdbers1057519484
MSV3drs1057519484
GWAS Ctlgrs1057519484
Max Magnitude0
ClinVar
Risk rs1057519484(T;T)
Alt rs1057519484(T;T)
Reference Rs1057519484(C;C)
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.111542381G>A
CLNSRC
CLNACC RCV000416527.1,