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rs11701

From SNPedia

Orientationplus
Stabilizedplus
Make rs11701(G;G)
Make rs11701(G;T)
Make rs11701(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position20693894
GeneANG, RNASE4
is asnp
is mentioned by
dbSNPrs11701
ebirs11701
HLIrs11701
Exacrs11701
Varsomers11701
Maprs11701
PheGenIrs11701
hapmaprs11701
1000 genomesrs11701
hgdprs11701
ensemblrs11701
gopubmedrs11701
geneviewrs11701
scholarrs11701
googlers11701
pharmgkbrs11701
gwascentralrs11701
openSNPrs11701
23andMers11701
23andMe allrs11701
SNP Nexus

SNPshotrs11701
SNPdbers11701
MSV3drs11701
GWAS Ctlgrs11701
GMAF0.1175
Max Magnitude
? (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.
OMIM611895
DescAMYOTROPHIC LATERAL SCLEROSIS 9; ALS9
Variant
Relatedalso
OMIM105850
DescANGIOGENIN; ANG
Variant
Relatedalso


[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 19363631OA-icon.png] 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 25206666OA-icon.png] Angiogenin gene polymorphism: A risk factor for diabetic peripheral neuropathy in the northern Chinese Han population