rs116840764
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs116840764(-;-) |
Make rs116840764(-;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 41966138 |
Gene | GLI3 |
is a | snp |
is | mentioned by |
dbSNP | rs116840764 |
dbSNP (classic) | rs116840764 |
ClinGen | rs116840764 |
ebi | rs116840764 |
HLI | rs116840764 |
Exac | rs116840764 |
Gnomad | rs116840764 |
Varsome | rs116840764 |
LitVar | rs116840764 |
Map | rs116840764 |
PheGenI | rs116840764 |
Biobank | rs116840764 |
1000 genomes | rs116840764 |
hgdp | rs116840764 |
ensembl | rs116840764 |
geneview | rs116840764 |
scholar | rs116840764 |
rs116840764 | |
pharmgkb | rs116840764 |
gwascentral | rs116840764 |
openSNP | rs116840764 |
23andMe | rs116840764 |
SNPshot | rs116840764 |
SNPdbe | rs116840764 |
MSV3d | rs116840764 |
GWAS Ctlg | rs116840764 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116840764(-;-) |
Alt | rs116840764(-;-) |
Reference | Rs116840764(T;T) |
Significance | Pathogenic |
Disease | Pallister-Hall syndrome |
Variation | info |
Gene | GLI3 |
CLNDBN | Pallister-Hall syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.42005736delA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000031879.1, |
[PMID 12575661] Gene symbol: GLI3. Disease: Pallister-Hall syndrome.