rs573444140
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs573444140(A;A) |
Make rs573444140(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 15 |
Position | 34275363 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs573444140 |
dbSNP (classic) | rs573444140 |
ClinGen | rs573444140 |
ebi | rs573444140 |
HLI | rs573444140 |
Exac | rs573444140 |
Gnomad | rs573444140 |
Varsome | rs573444140 |
LitVar | rs573444140 |
Map | rs573444140 |
PheGenI | rs573444140 |
Biobank | rs573444140 |
1000 genomes | rs573444140 |
hgdp | rs573444140 |
ensembl | rs573444140 |
geneview | rs573444140 |
scholar | rs573444140 |
rs573444140 | |
pharmgkb | rs573444140 |
gwascentral | rs573444140 |
openSNP | rs573444140 |
23andMe | rs573444140 |
SNPshot | rs573444140 |
SNPdbe | rs573444140 |
MSV3d | rs573444140 |
GWAS Ctlg | rs573444140 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs573444140(A;A) rs573444140(G;G) |
Alt | rs573444140(A;A) rs573444140(G;G) |
Reference | Rs573444140(C;C) |
Significance | Probable-Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.34567564C>A |
CLNSRC | |
CLNACC | RCV000409255.1, |