rs727504348
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Familial hypertrophic cardiomyopathy (possible) |
| (G;G) | 0 | common in clinvar |
| Make rs727504348(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | X |
| Position | 101397982 |
| Gene | GLA, RPL36A-HNRNPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727504348 |
| dbSNP (classic) | rs727504348 |
| ClinGen | rs727504348 |
| ebi | rs727504348 |
| HLI | rs727504348 |
| Exac | rs727504348 |
| Gnomad | rs727504348 |
| Varsome | rs727504348 |
| LitVar | rs727504348 |
| Map | rs727504348 |
| PheGenI | rs727504348 |
| Biobank | rs727504348 |
| 1000 genomes | rs727504348 |
| hgdp | rs727504348 |
| ensembl | rs727504348 |
| geneview | rs727504348 |
| scholar | rs727504348 |
| rs727504348 | |
| pharmgkb | rs727504348 |
| gwascentral | rs727504348 |
| openSNP | rs727504348 |
| 23andMe | rs727504348 |
| SNPshot | rs727504348 |
| SNPdbe | rs727504348 |
| MSV3d | rs727504348 |
| GWAS Ctlg | rs727504348 |
| Max Magnitude | 6 |
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685
].
| ClinVar | |
|---|---|
| Risk | rs727504348(A;A) |
| Alt | rs727504348(A;A) |
| Reference | Rs727504348(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Fabry disease |
| Variation | info |
| Gene | RPL36A-HNRNPH2 GLA |
| CLNDBN | Fabry disease |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100652970C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000154469.2, |
