rs606231229
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs606231229(C;T) |
Make rs606231229(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 34233934 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs606231229 |
dbSNP (classic) | rs606231229 |
ClinGen | rs606231229 |
ebi | rs606231229 |
HLI | rs606231229 |
Exac | rs606231229 |
Gnomad | rs606231229 |
Varsome | rs606231229 |
LitVar | rs606231229 |
Map | rs606231229 |
PheGenI | rs606231229 |
Biobank | rs606231229 |
1000 genomes | rs606231229 |
hgdp | rs606231229 |
ensembl | rs606231229 |
geneview | rs606231229 |
scholar | rs606231229 |
rs606231229 | |
pharmgkb | rs606231229 |
gwascentral | rs606231229 |
openSNP | rs606231229 |
23andMe | rs606231229 |
SNPshot | rs606231229 |
SNPdbe | rs606231229 |
MSV3d | rs606231229 |
GWAS Ctlg | rs606231229 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231229(T;T) |
Alt | rs606231229(T;T) |
Reference | Rs606231229(C;C) |
Significance | Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.34526135G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023393.3, |