rs775111365
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs775111365(-;AC) |
Make rs775111365(AC;AC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 34257759 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs775111365 |
dbSNP (classic) | rs775111365 |
ClinGen | rs775111365 |
ebi | rs775111365 |
HLI | rs775111365 |
Exac | rs775111365 |
Gnomad | rs775111365 |
Varsome | rs775111365 |
LitVar | rs775111365 |
Map | rs775111365 |
PheGenI | rs775111365 |
Biobank | rs775111365 |
1000 genomes | rs775111365 |
hgdp | rs775111365 |
ensembl | rs775111365 |
geneview | rs775111365 |
scholar | rs775111365 |
rs775111365 | |
pharmgkb | rs775111365 |
gwascentral | rs775111365 |
openSNP | rs775111365 |
23andMe | rs775111365 |
SNPshot | rs775111365 |
SNPdbe | rs775111365 |
MSV3d | rs775111365 |
GWAS Ctlg | rs775111365 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775111365(AC;AC) |
Alt | rs775111365(AC;AC) |
Reference | Rs775111365(-;-) |
Significance | Probable-Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.34549961_34549962dupAC |
CLNSRC | |
CLNACC | RCV000169349.1, |