rs137852735
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs137852735(-;A) |
Make rs137852735(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 868747 |
Gene | WNK1 |
is a | snp |
is | mentioned by |
dbSNP | rs137852735 |
dbSNP (classic) | rs137852735 |
ClinGen | rs137852735 |
ebi | rs137852735 |
HLI | rs137852735 |
Exac | rs137852735 |
Gnomad | rs137852735 |
Varsome | rs137852735 |
LitVar | rs137852735 |
Map | rs137852735 |
PheGenI | rs137852735 |
Biobank | rs137852735 |
1000 genomes | rs137852735 |
hgdp | rs137852735 |
ensembl | rs137852735 |
geneview | rs137852735 |
scholar | rs137852735 |
rs137852735 | |
pharmgkb | rs137852735 |
gwascentral | rs137852735 |
openSNP | rs137852735 |
23andMe | rs137852735 |
SNPshot | rs137852735 |
SNPdbe | rs137852735 |
MSV3d | rs137852735 |
GWAS Ctlg | rs137852735 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852735(A;A) |
Alt | rs137852735(A;A) |
Reference | Rs137852735(-;-) |
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.977913dupA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020432.1, |