rs199747285
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199747285(A;A) |
Make rs199747285(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 34260958 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs199747285 |
dbSNP (classic) | rs199747285 |
ClinGen | rs199747285 |
ebi | rs199747285 |
HLI | rs199747285 |
Exac | rs199747285 |
Gnomad | rs199747285 |
Varsome | rs199747285 |
LitVar | rs199747285 |
Map | rs199747285 |
PheGenI | rs199747285 |
Biobank | rs199747285 |
1000 genomes | rs199747285 |
hgdp | rs199747285 |
ensembl | rs199747285 |
geneview | rs199747285 |
scholar | rs199747285 |
rs199747285 | |
pharmgkb | rs199747285 |
gwascentral | rs199747285 |
openSNP | rs199747285 |
23andMe | rs199747285 |
SNPshot | rs199747285 |
SNPdbe | rs199747285 |
MSV3d | rs199747285 |
GWAS Ctlg | rs199747285 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199747285(A;A) |
Alt | rs199747285(A;A) |
Reference | Rs199747285(C;C) |
Significance | Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.34553159C>A |
CLNSRC | ClinVar University of Chicago |
CLNACC | RCV000147487.2, |