rs142498437
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs142498437(A;G) |
Make rs142498437(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 107690212 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs142498437 |
dbSNP (classic) | rs142498437 |
ClinGen | rs142498437 |
ebi | rs142498437 |
HLI | rs142498437 |
Exac | rs142498437 |
Gnomad | rs142498437 |
Varsome | rs142498437 |
LitVar | rs142498437 |
Map | rs142498437 |
PheGenI | rs142498437 |
Biobank | rs142498437 |
1000 genomes | rs142498437 |
hgdp | rs142498437 |
ensembl | rs142498437 |
geneview | rs142498437 |
scholar | rs142498437 |
rs142498437 | |
pharmgkb | rs142498437 |
gwascentral | rs142498437 |
openSNP | rs142498437 |
23andMe | rs142498437 |
SNPshot | rs142498437 |
SNPdbe | rs142498437 |
MSV3d | rs142498437 |
GWAS Ctlg | rs142498437 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142498437(G;G) |
Alt | rs142498437(G;G) |
Reference | Rs142498437(A;A) |
Significance | Probable-Pathogenic |
Disease | Pendred's syndrome |
Variation | info |
Gene | SLC26A4 |
CLNDBN | Pendred's syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.107330657A>G |
CLNSRC | |
CLNACC | RCV000411469.1, |