rs749838192
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| Make rs749838192(-;TGAGTCACTGCTGCATGCT) |
| Make rs749838192(TGAGTCACTGCTGCATGCT;TGAGTCACTGCTGCATGCT) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 50524395 |
| Gene | NCAPH2, SCO2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749838192 |
| dbSNP (classic) | rs749838192 |
| ClinGen | rs749838192 |
| ebi | rs749838192 |
| HLI | rs749838192 |
| Exac | rs749838192 |
| Gnomad | rs749838192 |
| Varsome | rs749838192 |
| LitVar | rs749838192 |
| Map | rs749838192 |
| PheGenI | rs749838192 |
| Biobank | rs749838192 |
| 1000 genomes | rs749838192 |
| hgdp | rs749838192 |
| ensembl | rs749838192 |
| geneview | rs749838192 |
| scholar | rs749838192 |
| rs749838192 | |
| pharmgkb | rs749838192 |
| gwascentral | rs749838192 |
| openSNP | rs749838192 |
| 23andMe | rs749838192 |
| SNPshot | rs749838192 |
| SNPdbe | rs749838192 |
| MSV3d | rs749838192 |
| GWAS Ctlg | rs749838192 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs749838192(TGAGTCACTGCTGCATGCT;TGAGTCACTGCTGCATGCT) |
| Alt | rs749838192(TGAGTCACTGCTGCATGCT;TGAGTCACTGCTGCATGCT) |
| Reference | Rs749838192(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Primary dilated cardiomyopathy |
| Variation | info |
| Gene | NCAPH2 SCO2 |
| CLNDBN | Primary dilated cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000022.10:g.50962824_50962825insTGAGTCACTGCTGCATGCT |
| CLNSRC | |
| CLNACC | RCV000208004.1, |
