rs397516418
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs397516418(G;G) |
Make rs397516418(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107694718 |
Gene | SLC26A4 |
is a | snp |
is | mentioned by |
dbSNP | rs397516418 |
dbSNP (classic) | rs397516418 |
ClinGen | rs397516418 |
ebi | rs397516418 |
HLI | rs397516418 |
Exac | rs397516418 |
Gnomad | rs397516418 |
Varsome | rs397516418 |
LitVar | rs397516418 |
Map | rs397516418 |
PheGenI | rs397516418 |
Biobank | rs397516418 |
1000 genomes | rs397516418 |
hgdp | rs397516418 |
ensembl | rs397516418 |
geneview | rs397516418 |
scholar | rs397516418 |
rs397516418 | |
pharmgkb | rs397516418 |
gwascentral | rs397516418 |
openSNP | rs397516418 |
23andMe | rs397516418 |
SNPshot | rs397516418 |
SNPdbe | rs397516418 |
MSV3d | rs397516418 |
GWAS Ctlg | rs397516418 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516418(G;G) |
Alt | rs397516418(G;G) |
Reference | Rs397516418(T;T) |
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.107335163T>G |
CLNSRC | ClinVar |
CLNACC | RCV000036442.2, RCV000410548.1, |