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rs1057519488

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057519488(-;-)
Make rs1057519488(-;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position110618315
GenePITX2
is asnp
is mentioned by
dbSNPrs1057519488
dbSNP (old)rs1057519488
ClinGenrs1057519488
ebirs1057519488
HLIrs1057519488
Exacrs1057519488
Gnomadrs1057519488
Varsomers1057519488
Maprs1057519488
PheGenIrs1057519488
Biobankrs1057519488
1000 genomesrs1057519488
hgdprs1057519488
ensemblrs1057519488
gopubmedrs1057519488
geneviewrs1057519488
scholarrs1057519488
googlers1057519488
pharmgkbrs1057519488
gwascentralrs1057519488
openSNPrs1057519488
23andMers1057519488
23andMe allrs1057519488
SNPshotrs1057519488
SNPdbers1057519488
MSV3drs1057519488
GWAS Ctlgrs1057519488
Max Magnitude0
ClinVar
Risk rs1057519488(-;-)
Alt rs1057519488(-;-)
Reference Rs1057519488(TC;TC)
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.111539471_111539472delGA
CLNSRC
CLNACC RCV000416496.1,