rs1057516262
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057516262(C;T) |
Make rs1057516262(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 34237544 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516262 |
dbSNP (classic) | rs1057516262 |
ClinGen | rs1057516262 |
ebi | rs1057516262 |
HLI | rs1057516262 |
Exac | rs1057516262 |
Gnomad | rs1057516262 |
Varsome | rs1057516262 |
LitVar | rs1057516262 |
Map | rs1057516262 |
PheGenI | rs1057516262 |
Biobank | rs1057516262 |
1000 genomes | rs1057516262 |
hgdp | rs1057516262 |
ensembl | rs1057516262 |
geneview | rs1057516262 |
scholar | rs1057516262 |
rs1057516262 | |
pharmgkb | rs1057516262 |
gwascentral | rs1057516262 |
openSNP | rs1057516262 |
23andMe | rs1057516262 |
SNPshot | rs1057516262 |
SNPdbe | rs1057516262 |
MSV3d | rs1057516262 |
GWAS Ctlg | rs1057516262 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516262(T;T) |
Alt | rs1057516262(T;T) |
Reference | Rs1057516262(C;C) |
Significance | Probable-Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.34529745G>A |
CLNSRC | |
CLNACC | RCV000409483.1, |