rs786204600
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786204600(-;-) |
Make rs786204600(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 107683326 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs786204600 |
dbSNP (classic) | rs786204600 |
ClinGen | rs786204600 |
ebi | rs786204600 |
HLI | rs786204600 |
Exac | rs786204600 |
Gnomad | rs786204600 |
Varsome | rs786204600 |
LitVar | rs786204600 |
Map | rs786204600 |
PheGenI | rs786204600 |
Biobank | rs786204600 |
1000 genomes | rs786204600 |
hgdp | rs786204600 |
ensembl | rs786204600 |
geneview | rs786204600 |
scholar | rs786204600 |
rs786204600 | |
pharmgkb | rs786204600 |
gwascentral | rs786204600 |
openSNP | rs786204600 |
23andMe | rs786204600 |
SNPshot | rs786204600 |
SNPdbe | rs786204600 |
MSV3d | rs786204600 |
GWAS Ctlg | rs786204600 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204600(-;-) |
Alt | rs786204600(-;-) |
Reference | Rs786204600(C;C) |
Significance | Probable-Pathogenic |
Disease | Pendred's syndrome |
Variation | info |
Gene | SLC26A4 |
CLNDBN | Pendred's syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.107323771delC |
CLNSRC | |
CLNACC | RCV000169356.1, |