rs116840802
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TCTG;TCTG) | 0 | common in clinvar |
| Make rs116840802(-;-) |
| Make rs116840802(-;TCTG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8745701 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs116840802 |
| dbSNP (classic) | rs116840802 |
| ClinGen | rs116840802 |
| ebi | rs116840802 |
| HLI | rs116840802 |
| Exac | rs116840802 |
| Gnomad | rs116840802 |
| Varsome | rs116840802 |
| LitVar | rs116840802 |
| Map | rs116840802 |
| PheGenI | rs116840802 |
| Biobank | rs116840802 |
| 1000 genomes | rs116840802 |
| hgdp | rs116840802 |
| ensembl | rs116840802 |
| geneview | rs116840802 |
| scholar | rs116840802 |
| rs116840802 | |
| pharmgkb | rs116840802 |
| gwascentral | rs116840802 |
| openSNP | rs116840802 |
| 23andMe | rs116840802 |
| SNPshot | rs116840802 |
| SNPdbe | rs116840802 |
| MSV3d | rs116840802 |
| GWAS Ctlg | rs116840802 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs116840802(TCTG;TCTG) |
| Significance | Untested |
| Disease | Creatine phosphokinase Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | CAV3 |
| CLNDBN | Creatine phosphokinase, elevated serum Limb-girdle muscular dystrophy, type 1C |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8787387_8787390delTCTG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | SCV000028991.1, SCV000028991.1, SCV000028993.1, SCV000028993.1, |
[PMID 14663034] A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
[PMID 14663034] A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
[PMID 14663034] A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
