rs606231303
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs606231303(C;T) |
Make rs606231303(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 11174532 |
Gene | KANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs606231303 |
dbSNP (classic) | rs606231303 |
ClinGen | rs606231303 |
ebi | rs606231303 |
HLI | rs606231303 |
Exac | rs606231303 |
Gnomad | rs606231303 |
Varsome | rs606231303 |
LitVar | rs606231303 |
Map | rs606231303 |
PheGenI | rs606231303 |
Biobank | rs606231303 |
1000 genomes | rs606231303 |
hgdp | rs606231303 |
ensembl | rs606231303 |
geneview | rs606231303 |
scholar | rs606231303 |
rs606231303 | |
pharmgkb | rs606231303 |
gwascentral | rs606231303 |
openSNP | rs606231303 |
23andMe | rs606231303 |
SNPshot | rs606231303 |
SNPdbe | rs606231303 |
MSV3d | rs606231303 |
GWAS Ctlg | rs606231303 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231303(T;T) |
Alt | rs606231303(T;T) |
Reference | Rs606231303(C;C) |
Significance | Pathogenic |
Disease | Palmoplantar keratoderma and woolly hair |
Variation | info |
Gene | KANK2 |
CLNDBN | Palmoplantar keratoderma and woolly hair |
Reversed | 1 |
HGVS | NC_000019.9:g.11285208G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000145417.3, |