rs749038326
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Familial Hypercholesterolemia |
| (G;G) | 0 | common in clinvar |
| (G;T) | 5 | Familial Hypercholesterolemia |
| Make rs749038326(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 11102741 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749038326 |
| dbSNP (classic) | rs749038326 |
| ClinGen | rs749038326 |
| ebi | rs749038326 |
| HLI | rs749038326 |
| Exac | rs749038326 |
| Gnomad | rs749038326 |
| Varsome | rs749038326 |
| LitVar | rs749038326 |
| Map | rs749038326 |
| PheGenI | rs749038326 |
| Biobank | rs749038326 |
| 1000 genomes | rs749038326 |
| hgdp | rs749038326 |
| ensembl | rs749038326 |
| geneview | rs749038326 |
| scholar | rs749038326 |
| rs749038326 | |
| pharmgkb | rs749038326 |
| gwascentral | rs749038326 |
| openSNP | rs749038326 |
| 23andMe | rs749038326 |
| SNPshot | rs749038326 |
| SNPdbe | rs749038326 |
| MSV3d | rs749038326 |
| GWAS Ctlg | rs749038326 |
| Max Magnitude | 5 |
aka c.268G>T (p.Asp90Tyr) and also c.268G>A (p.Asp90Asn); both are considered likely to be pathogenic for FH in ClinVar
23andMe name for c.268G>A: i5000142
| ClinVar | |
|---|---|
| Risk | rs749038326(A;A) rs749038326(T;T) |
| Alt | rs749038326(A;A) rs749038326(T;T) |
| Reference | Rs749038326(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not provided |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11213417G>A; NC_000019.9:g.11213417G>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000238573.2, RCV000494304.1, RCV000237660.1, |
