rs200455203
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200455203(C;C) |
Make rs200455203(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 107701998 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs200455203 |
dbSNP (classic) | rs200455203 |
ClinGen | rs200455203 |
ebi | rs200455203 |
HLI | rs200455203 |
Exac | rs200455203 |
Gnomad | rs200455203 |
Varsome | rs200455203 |
LitVar | rs200455203 |
Map | rs200455203 |
PheGenI | rs200455203 |
Biobank | rs200455203 |
1000 genomes | rs200455203 |
hgdp | rs200455203 |
ensembl | rs200455203 |
geneview | rs200455203 |
scholar | rs200455203 |
rs200455203 | |
pharmgkb | rs200455203 |
gwascentral | rs200455203 |
openSNP | rs200455203 |
23andMe | rs200455203 |
SNPshot | rs200455203 |
SNPdbe | rs200455203 |
MSV3d | rs200455203 |
GWAS Ctlg | rs200455203 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200455203(C;C) |
Alt | rs200455203(C;C) |
Reference | Rs200455203(G;G) |
Significance | Probable-Pathogenic |
Disease | Pendred's syndrome |
Variation | info |
Gene | SLC26A4 |
CLNDBN | Pendred's syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.107342443G>C |
CLNSRC | |
CLNACC | RCV000169245.1, |