rs762730861
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs762730861(C;T) |
Make rs762730861(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 34254347 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs762730861 |
dbSNP (classic) | rs762730861 |
ClinGen | rs762730861 |
ebi | rs762730861 |
HLI | rs762730861 |
Exac | rs762730861 |
Gnomad | rs762730861 |
Varsome | rs762730861 |
LitVar | rs762730861 |
Map | rs762730861 |
PheGenI | rs762730861 |
Biobank | rs762730861 |
1000 genomes | rs762730861 |
hgdp | rs762730861 |
ensembl | rs762730861 |
geneview | rs762730861 |
scholar | rs762730861 |
rs762730861 | |
pharmgkb | rs762730861 |
gwascentral | rs762730861 |
openSNP | rs762730861 |
23andMe | rs762730861 |
SNPshot | rs762730861 |
SNPdbe | rs762730861 |
MSV3d | rs762730861 |
GWAS Ctlg | rs762730861 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762730861(T;T) |
Alt | rs762730861(T;T) |
Reference | Rs762730861(C;C) |
Significance | Probable-Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.34546548C>T |
CLNSRC | |
CLNACC | RCV000412092.1, |