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rs144372453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs144372453(C;C)
Make rs144372453(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position120990577
GeneGLI2
is asnp
is mentioned by
dbSNPrs144372453
ebirs144372453
HLIrs144372453
Exacrs144372453
Varsomers144372453
Maprs144372453
PheGenIrs144372453
hapmaprs144372453
1000 genomesrs144372453
hgdprs144372453
ensemblrs144372453
gopubmedrs144372453
geneviewrs144372453
scholarrs144372453
googlers144372453
pharmgkbrs144372453
gwascentralrs144372453
openSNPrs144372453
23andMers144372453
23andMe allrs144372453
SNP Nexus

SNPshotrs144372453
SNPdbers144372453
MSV3drs144372453
GWAS Ctlgrs144372453
GMAF0.001377
Max Magnitude0
ClinVar
Risk rs144372453(C;C)
Alt rs144372453(C;C)
Reference rs144372453(T;T)
Significance Pathogenic
Disease Holoprosencephaly 9 not specified
Variation info
Gene GLI2
CLNDBN Holoprosencephaly 9 not specified
Reversed 0
HGVS NC_000002.11:g.121748153T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000030728.25, RCV000174544.1,