rs11903223
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs11903223(A;A) |
| Make rs11903223(A;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 71686599 |
| Gene | DYSF |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11903223 |
| dbSNP (classic) | rs11903223 |
| ClinGen | rs11903223 |
| ebi | rs11903223 |
| HLI | rs11903223 |
| Exac | rs11903223 |
| Gnomad | rs11903223 |
| Varsome | rs11903223 |
| LitVar | rs11903223 |
| Map | rs11903223 |
| PheGenI | rs11903223 |
| Biobank | rs11903223 |
| 1000 genomes | rs11903223 |
| hgdp | rs11903223 |
| ensembl | rs11903223 |
| geneview | rs11903223 |
| scholar | rs11903223 |
| rs11903223 | |
| pharmgkb | rs11903223 |
| gwascentral | rs11903223 |
| openSNP | rs11903223 |
| 23andMe | rs11903223 |
| SNPshot | rs11903223 |
| SNPdbe | rs11903223 |
| MSV3d | rs11903223 |
| GWAS Ctlg | rs11903223 |
| Max Magnitude | 0 |
[PMID 27569544
] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
| ClinVar | |
|---|---|
| Risk | rs11903223(A;A) rs11903223(G;G) |
| Alt | rs11903223(A;A) rs11903223(G;G) |
| Reference | Rs11903223(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | DYSF |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.71913729T>A |
| CLNSRC | |
| CLNACC | RCV000351649.2, |
