rs757820624
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs757820624(A;G) |
Make rs757820624(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 107710135 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs757820624 |
dbSNP (classic) | rs757820624 |
ClinGen | rs757820624 |
ebi | rs757820624 |
HLI | rs757820624 |
Exac | rs757820624 |
Gnomad | rs757820624 |
Varsome | rs757820624 |
LitVar | rs757820624 |
Map | rs757820624 |
PheGenI | rs757820624 |
Biobank | rs757820624 |
1000 genomes | rs757820624 |
hgdp | rs757820624 |
ensembl | rs757820624 |
geneview | rs757820624 |
scholar | rs757820624 |
rs757820624 | |
pharmgkb | rs757820624 |
gwascentral | rs757820624 |
openSNP | rs757820624 |
23andMe | rs757820624 |
SNPshot | rs757820624 |
SNPdbe | rs757820624 |
MSV3d | rs757820624 |
GWAS Ctlg | rs757820624 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757820624(G;G) |
Alt | rs757820624(G;G) |
Reference | Rs757820624(A;A) |
Significance | Pathogenic |
Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
Variation | info |
Gene | SLC26A4 |
CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.107350580A>G |
CLNSRC | |
CLNACC | RCV000218320.1, |