rs149998588
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs149998588(C;T) |
| Make rs149998588(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 52479759 |
| Gene | EFHC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149998588 |
| dbSNP (classic) | rs149998588 |
| ClinGen | rs149998588 |
| ebi | rs149998588 |
| HLI | rs149998588 |
| Exac | rs149998588 |
| Gnomad | rs149998588 |
| Varsome | rs149998588 |
| LitVar | rs149998588 |
| Map | rs149998588 |
| PheGenI | rs149998588 |
| Biobank | rs149998588 |
| 1000 genomes | rs149998588 |
| hgdp | rs149998588 |
| ensembl | rs149998588 |
| geneview | rs149998588 |
| scholar | rs149998588 |
| rs149998588 | |
| pharmgkb | rs149998588 |
| gwascentral | rs149998588 |
| openSNP | rs149998588 |
| 23andMe | rs149998588 |
| SNPshot | rs149998588 |
| SNPdbe | rs149998588 |
| MSV3d | rs149998588 |
| GWAS Ctlg | rs149998588 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149998588(T;T) |
| Alt | rs149998588(T;T) |
| Reference | Rs149998588(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | EFHC1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000006.11:g.52344557C>T |
| CLNSRC | |
| CLNACC | RCV000187372.1, |
