rs116840754
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CTTCCTCTGACCGATGGAG;CTTCCTCTGACCGATGGAG) | 0 | common in clinvar |
| Make rs116840754(-;-) |
| Make rs116840754(-;CTTCCTCTGACCGATGGAG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 41967821 |
| Gene | GLI3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116840754 |
| dbSNP (classic) | rs116840754 |
| ClinGen | rs116840754 |
| ebi | rs116840754 |
| HLI | rs116840754 |
| Exac | rs116840754 |
| Gnomad | rs116840754 |
| Varsome | rs116840754 |
| LitVar | rs116840754 |
| Map | rs116840754 |
| PheGenI | rs116840754 |
| Biobank | rs116840754 |
| 1000 genomes | rs116840754 |
| hgdp | rs116840754 |
| ensembl | rs116840754 |
| geneview | rs116840754 |
| scholar | rs116840754 |
| rs116840754 | |
| pharmgkb | rs116840754 |
| gwascentral | rs116840754 |
| openSNP | rs116840754 |
| 23andMe | rs116840754 |
| SNPshot | rs116840754 |
| SNPdbe | rs116840754 |
| MSV3d | rs116840754 |
| GWAS Ctlg | rs116840754 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs116840754(-;-) |
| Alt | rs116840754(-;-) |
| Reference | Rs116840754(CTTCCTCTGACCGATGGAG;CTTCCTCTGACCGATGGAG) |
| Significance | Pathogenic |
| Disease | Pallister-Hall syndrome |
| Variation | info |
| Gene | GLI3 |
| CLNDBN | Pallister-Hall syndrome |
| Reversed | 1 |
| HGVS | NC_000007.13:g.42007419_42007437del19 |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014841.24, |
[PMID 10945658] Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.
[PMID 15739154
] Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
