rs11701
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs11701(G;G) |
| Make rs11701(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 20693894 |
| Gene | ANG, RNASE4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11701 |
| dbSNP (classic) | rs11701 |
| ClinGen | rs11701 |
| ebi | rs11701 |
| HLI | rs11701 |
| Exac | rs11701 |
| Gnomad | rs11701 |
| Varsome | rs11701 |
| LitVar | rs11701 |
| Map | rs11701 |
| PheGenI | rs11701 |
| Biobank | rs11701 |
| 1000 genomes | rs11701 |
| hgdp | rs11701 |
| ensembl | rs11701 |
| geneview | rs11701 |
| scholar | rs11701 |
| rs11701 | |
| pharmgkb | rs11701 |
| gwascentral | rs11701 |
| openSNP | rs11701 |
| 23andMe | rs11701 |
| SNPshot | rs11701 |
| SNPdbe | rs11701 |
| MSV3d | rs11701 |
| GWAS Ctlg | rs11701 |
| GMAF | 0.1175 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
The common form at this site in most populations is rs11701(T), and the variant form is rs11701(G).
Having at least one copy of this variant form, rs11701(G), has been associated with an increased incidence of ALS in Scottish and Irish populations studied, but not in populations from the U.S., Sweden, or England. [PMID 16501576]
- rs11701 In Irish amyotrophic lateral sclerosis patients, there was a significant allelic association with the rs11701 SNP & a new mutation (K40I) that potentially inhibits angiogenin function.
[PMID 15557516] A novel candidate region for ALS on chromosome 14q11.2.
[PMID 17113198] Absence of angiogenic genes modification in Italian ALS patients.
[PMID 17462671] Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population.
[PMID 17703939] A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.
[PMID 18852347] Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.
[PMID 19363631
] Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.
[PMID 22292798] Identification of a novel missense mutation in angiogenin in a Chinese amyotrophic lateral sclerosis cohort.
[PMID 25206666] Angiogenin gene polymorphism: A risk factor for diabetic peripheral neuropathy in the northern Chinese Han population
| ClinVar | |
|---|---|
| Risk | rs11701(A;A) rs11701(G;G) |
| Alt | rs11701(A;A) rs11701(G;G) |
| Reference | Rs11701(T;T) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Amyotrophic Lateral Sclerosis |
| Variation | info |
| Gene | RNASE4 ANG |
| CLNDBN | not specified Amyotrophic Lateral Sclerosis, Dominant |
| Reversed | 0 |
| HGVS | NC_000014.8:g.21162053T>G |
| CLNSRC | |
| CLNACC | RCV000246821.1, RCV000319573.1, |
