rs111033590
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033590(C;T) |
Make rs111033590(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 868772 |
Gene | WNK1 |
is a | snp |
is | mentioned by |
dbSNP | rs111033590 |
dbSNP (classic) | rs111033590 |
ClinGen | rs111033590 |
ebi | rs111033590 |
HLI | rs111033590 |
Exac | rs111033590 |
Gnomad | rs111033590 |
Varsome | rs111033590 |
LitVar | rs111033590 |
Map | rs111033590 |
PheGenI | rs111033590 |
Biobank | rs111033590 |
1000 genomes | rs111033590 |
hgdp | rs111033590 |
ensembl | rs111033590 |
geneview | rs111033590 |
scholar | rs111033590 |
rs111033590 | |
pharmgkb | rs111033590 |
gwascentral | rs111033590 |
openSNP | rs111033590 |
23andMe | rs111033590 |
SNPshot | rs111033590 |
SNPdbe | rs111033590 |
MSV3d | rs111033590 |
GWAS Ctlg | rs111033590 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033590(T;T) |
Alt | rs111033590(T;T) |
Reference | Rs111033590(C;C) |
Significance | Pathogenic |
Disease | Hereditary sensory and autonomic neuropathy type IIA |
Variation | info |
Gene | WNK1 |
CLNDBN | Hereditary sensory and autonomic neuropathy type IIA |
Reversed | 0 |
HGVS | NC_000012.11:g.977938C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000020433.1, |