rs11466112
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs11466112(C;T) |
Make rs11466112(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 115286135 |
Gene | LOC105378917, NGF |
is a | snp |
is | mentioned by |
dbSNP | rs11466112 |
dbSNP (classic) | rs11466112 |
ClinGen | rs11466112 |
ebi | rs11466112 |
HLI | rs11466112 |
Exac | rs11466112 |
Gnomad | rs11466112 |
Varsome | rs11466112 |
LitVar | rs11466112 |
Map | rs11466112 |
PheGenI | rs11466112 |
Biobank | rs11466112 |
1000 genomes | rs11466112 |
hgdp | rs11466112 |
ensembl | rs11466112 |
geneview | rs11466112 |
scholar | rs11466112 |
rs11466112 | |
pharmgkb | rs11466112 |
gwascentral | rs11466112 |
openSNP | rs11466112 |
23andMe | rs11466112 |
SNPshot | rs11466112 |
SNPdbe | rs11466112 |
MSV3d | rs11466112 |
GWAS Ctlg | rs11466112 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs11466112(T;T) |
Alt | rs11466112(T;T) |
Reference | Rs11466112(C;C) |
Significance | Pathogenic |
Disease | Congenital sensory neuropathy with selective loss of small myelinated fibers |
Variation | info |
Gene | NGF |
CLNDBN | Congenital sensory neuropathy with selective loss of small myelinated fibers |
Reversed | 1 |
HGVS | NC_000001.10:g.115828756G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015089.27, |
[PMID 17212826] TAMGeS: a Three-array Method for Genotyping of SNPs by a dual-colour approach.
[PMID 26579581] Genetic and environmental predictors of chronic kidney disease in patients with type 2 diabetes and diabetic foot ulcer: a pilot study