rs370588279
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs370588279(A;A) |
Make rs370588279(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 107663400 |
Gene | SLC26A4, SLC26A4-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs370588279 |
dbSNP (classic) | rs370588279 |
ClinGen | rs370588279 |
ebi | rs370588279 |
HLI | rs370588279 |
Exac | rs370588279 |
Gnomad | rs370588279 |
Varsome | rs370588279 |
LitVar | rs370588279 |
Map | rs370588279 |
PheGenI | rs370588279 |
Biobank | rs370588279 |
1000 genomes | rs370588279 |
hgdp | rs370588279 |
ensembl | rs370588279 |
geneview | rs370588279 |
scholar | rs370588279 |
rs370588279 | |
pharmgkb | rs370588279 |
gwascentral | rs370588279 |
openSNP | rs370588279 |
23andMe | rs370588279 |
SNPshot | rs370588279 |
SNPdbe | rs370588279 |
MSV3d | rs370588279 |
GWAS Ctlg | rs370588279 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370588279(A;A) rs370588279(T;T) |
Alt | rs370588279(A;A) rs370588279(T;T) |
Reference | Rs370588279(C;C) |
Significance | Probable-Pathogenic |
Disease | Pendred's syndrome |
Variation | info |
Gene | SLC26A4-AS1 SLC26A4 |
CLNDBN | Pendred's syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.107303845C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169192.1, |