rs3738880
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs3738880(A;A) |
Make rs3738880(A;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 120989380 |
Gene | GLI2 |
is a | snp |
is | mentioned by |
dbSNP | rs3738880 |
dbSNP (classic) | rs3738880 |
ClinGen | rs3738880 |
ebi | rs3738880 |
HLI | rs3738880 |
Exac | rs3738880 |
Gnomad | rs3738880 |
Varsome | rs3738880 |
LitVar | rs3738880 |
Map | rs3738880 |
PheGenI | rs3738880 |
Biobank | rs3738880 |
1000 genomes | rs3738880 |
hgdp | rs3738880 |
ensembl | rs3738880 |
geneview | rs3738880 |
scholar | rs3738880 |
rs3738880 | |
pharmgkb | rs3738880 |
gwascentral | rs3738880 |
openSNP | rs3738880 |
23andMe | rs3738880 |
SNPshot | rs3738880 |
SNPdbe | rs3738880 |
MSV3d | rs3738880 |
GWAS Ctlg | rs3738880 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
[PMID 28057877] Previous miscarriages and GLI2 are associated with anorectal malformations in offspring.
ClinVar | |
---|---|
Risk | rs3738880(A;A) |
Alt | rs3738880(A;A) |
Reference | Rs3738880(C;C) |
Significance | Non-pathogenic |
Disease | not specified Holoprosencephaly |
Variation | info |
Gene | GLI2 |
CLNDBN | not specified Holoprosencephaly |
Reversed | 1 |
HGVS | NC_000002.11:g.121746956G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000081284.5, RCV000273393.1, |