rs1057518713
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs1057518713(-;C) |
Make rs1057518713(C;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 34336430 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518713 |
dbSNP (classic) | rs1057518713 |
ClinGen | rs1057518713 |
ebi | rs1057518713 |
HLI | rs1057518713 |
Exac | rs1057518713 |
Gnomad | rs1057518713 |
Varsome | rs1057518713 |
LitVar | rs1057518713 |
Map | rs1057518713 |
PheGenI | rs1057518713 |
Biobank | rs1057518713 |
1000 genomes | rs1057518713 |
hgdp | rs1057518713 |
ensembl | rs1057518713 |
geneview | rs1057518713 |
scholar | rs1057518713 |
rs1057518713 | |
pharmgkb | rs1057518713 |
gwascentral | rs1057518713 |
openSNP | rs1057518713 |
23andMe | rs1057518713 |
SNPshot | rs1057518713 |
SNPdbe | rs1057518713 |
MSV3d | rs1057518713 |
GWAS Ctlg | rs1057518713 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518713(C;C) |
Alt | rs1057518713(C;C) |
Reference | Rs1057518713(-;-) |
Significance | Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.34628632dupG |
CLNSRC | |
CLNACC | RCV000415112.1, |