rs144372453
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs144372453(C;C) |
Make rs144372453(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 120990577 |
Gene | GLI2 |
is a | snp |
is | mentioned by |
dbSNP | rs144372453 |
dbSNP (classic) | rs144372453 |
ClinGen | rs144372453 |
ebi | rs144372453 |
HLI | rs144372453 |
Exac | rs144372453 |
Gnomad | rs144372453 |
Varsome | rs144372453 |
LitVar | rs144372453 |
Map | rs144372453 |
PheGenI | rs144372453 |
Biobank | rs144372453 |
1000 genomes | rs144372453 |
hgdp | rs144372453 |
ensembl | rs144372453 |
geneview | rs144372453 |
scholar | rs144372453 |
rs144372453 | |
pharmgkb | rs144372453 |
gwascentral | rs144372453 |
openSNP | rs144372453 |
23andMe | rs144372453 |
SNPshot | rs144372453 |
SNPdbe | rs144372453 |
MSV3d | rs144372453 |
GWAS Ctlg | rs144372453 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144372453(C;C) |
Alt | rs144372453(C;C) |
Reference | Rs144372453(T;T) |
Significance | Other |
Disease | Holoprosencephaly 9 not specified Holoprosencephaly |
Variation | info |
Gene | GLI2 |
CLNDBN | Holoprosencephaly 9 not specified Holoprosencephaly |
Reversed | 0 |
HGVS | NC_000002.11:g.121748153T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030728.26, RCV000174544.2, RCV000323793.1, |