rs121908427
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908427(C;T) |
Make rs121908427(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 34236719 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs121908427 |
dbSNP (classic) | rs121908427 |
ClinGen | rs121908427 |
ebi | rs121908427 |
HLI | rs121908427 |
Exac | rs121908427 |
Gnomad | rs121908427 |
Varsome | rs121908427 |
LitVar | rs121908427 |
Map | rs121908427 |
PheGenI | rs121908427 |
Biobank | rs121908427 |
1000 genomes | rs121908427 |
hgdp | rs121908427 |
ensembl | rs121908427 |
geneview | rs121908427 |
scholar | rs121908427 |
rs121908427 | |
pharmgkb | rs121908427 |
gwascentral | rs121908427 |
openSNP | rs121908427 |
23andMe | rs121908427 |
SNPshot | rs121908427 |
SNPdbe | rs121908427 |
MSV3d | rs121908427 |
GWAS Ctlg | rs121908427 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908427(A;A) rs121908427(T;T) |
Alt | rs121908427(A;A) rs121908427(T;T) |
Reference | Rs121908427(C;C) |
Significance | Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.34528920G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005652.4, |