rs397516414
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397516414(A;A) |
Make rs397516414(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107690178 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs397516414 |
dbSNP (classic) | rs397516414 |
ClinGen | rs397516414 |
ebi | rs397516414 |
HLI | rs397516414 |
Exac | rs397516414 |
Gnomad | rs397516414 |
Varsome | rs397516414 |
LitVar | rs397516414 |
Map | rs397516414 |
PheGenI | rs397516414 |
Biobank | rs397516414 |
1000 genomes | rs397516414 |
hgdp | rs397516414 |
ensembl | rs397516414 |
geneview | rs397516414 |
scholar | rs397516414 |
rs397516414 | |
pharmgkb | rs397516414 |
gwascentral | rs397516414 |
openSNP | rs397516414 |
23andMe | rs397516414 |
SNPshot | rs397516414 |
SNPdbe | rs397516414 |
MSV3d | rs397516414 |
GWAS Ctlg | rs397516414 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516414(A;A) |
Alt | rs397516414(A;A) |
Reference | Rs397516414(G;G) |
Significance | Probable-Pathogenic |
Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome SLC26A4-Related Disorders |
Variation | info |
Gene | SLC26A4 |
CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome SLC26A4-Related Disorders |
Reversed | 0 |
HGVS | NC_000007.13:g.107330623G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000036427.2, RCV000259862.1, |