rs122455132
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs122455132(C;C) |
Make rs122455132(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 74529232 |
Gene | SLC16A2 |
is a | snp |
is | mentioned by |
dbSNP | rs122455132 |
dbSNP (classic) | rs122455132 |
ClinGen | rs122455132 |
ebi | rs122455132 |
HLI | rs122455132 |
Exac | rs122455132 |
Gnomad | rs122455132 |
Varsome | rs122455132 |
LitVar | rs122455132 |
Map | rs122455132 |
PheGenI | rs122455132 |
Biobank | rs122455132 |
1000 genomes | rs122455132 |
hgdp | rs122455132 |
ensembl | rs122455132 |
geneview | rs122455132 |
scholar | rs122455132 |
rs122455132 | |
pharmgkb | rs122455132 |
gwascentral | rs122455132 |
openSNP | rs122455132 |
23andMe | rs122455132 |
SNPshot | rs122455132 |
SNPdbe | rs122455132 |
MSV3d | rs122455132 |
GWAS Ctlg | rs122455132 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs122455132(C;C) |
Alt | rs122455132(C;C) |
Reference | Rs122455132(T;T) |
Significance | Pathogenic |
Disease | Allan-Herndon-Dudley syndrome Intellectual disability |
Variation | info |
Gene | SLC16A2 |
CLNDBN | Allan-Herndon-Dudley syndrome Intellectual disability |
Reversed | 0 |
HGVS | NC_000023.10:g.73749067T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012402.23, RCV000224792.1, |