rs606231157
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs606231157(-;-) |
Make rs606231157(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 34254565 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs606231157 |
dbSNP (classic) | rs606231157 |
ClinGen | rs606231157 |
ebi | rs606231157 |
HLI | rs606231157 |
Exac | rs606231157 |
Gnomad | rs606231157 |
Varsome | rs606231157 |
LitVar | rs606231157 |
Map | rs606231157 |
PheGenI | rs606231157 |
Biobank | rs606231157 |
1000 genomes | rs606231157 |
hgdp | rs606231157 |
ensembl | rs606231157 |
geneview | rs606231157 |
scholar | rs606231157 |
rs606231157 | |
pharmgkb | rs606231157 |
gwascentral | rs606231157 |
openSNP | rs606231157 |
23andMe | rs606231157 |
SNPshot | rs606231157 |
SNPdbe | rs606231157 |
MSV3d | rs606231157 |
GWAS Ctlg | rs606231157 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231157(-;-) |
Alt | rs606231157(-;-) |
Reference | Rs606231157(A;A) |
Significance | Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.34546766delT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005656.3, |