rs111033591
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs111033591(C;T) |
Make rs111033591(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 868697 |
Gene | WNK1 |
is a | snp |
is | mentioned by |
dbSNP | rs111033591 |
dbSNP (classic) | rs111033591 |
ClinGen | rs111033591 |
ebi | rs111033591 |
HLI | rs111033591 |
Exac | rs111033591 |
Gnomad | rs111033591 |
Varsome | rs111033591 |
LitVar | rs111033591 |
Map | rs111033591 |
PheGenI | rs111033591 |
Biobank | rs111033591 |
1000 genomes | rs111033591 |
hgdp | rs111033591 |
ensembl | rs111033591 |
geneview | rs111033591 |
scholar | rs111033591 |
rs111033591 | |
pharmgkb | rs111033591 |
gwascentral | rs111033591 |
openSNP | rs111033591 |
23andMe | rs111033591 |
SNPshot | rs111033591 |
SNPdbe | rs111033591 |
MSV3d | rs111033591 |
GWAS Ctlg | rs111033591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033591(T;T) |
Alt | rs111033591(T;T) |
Reference | Rs111033591(C;C) |
Significance | Pathogenic |
Disease | Hereditary sensory and autonomic neuropathy type IIA not provided |
Variation | info |
Gene | WNK1 |
CLNDBN | Hereditary sensory and autonomic neuropathy type IIA not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.977863C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005475.3, RCV000480631.1, |