rs431905518
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs431905518(A;A) |
Make rs431905518(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 103420821 |
Gene | SLC26A5 |
is a | snp |
is | mentioned by |
dbSNP | rs431905518 |
dbSNP (classic) | rs431905518 |
ClinGen | rs431905518 |
ebi | rs431905518 |
HLI | rs431905518 |
Exac | rs431905518 |
Gnomad | rs431905518 |
Varsome | rs431905518 |
LitVar | rs431905518 |
Map | rs431905518 |
PheGenI | rs431905518 |
Biobank | rs431905518 |
1000 genomes | rs431905518 |
hgdp | rs431905518 |
ensembl | rs431905518 |
geneview | rs431905518 |
scholar | rs431905518 |
rs431905518 | |
pharmgkb | rs431905518 |
gwascentral | rs431905518 |
openSNP | rs431905518 |
23andMe | rs431905518 |
SNPshot | rs431905518 |
SNPdbe | rs431905518 |
MSV3d | rs431905518 |
GWAS Ctlg | rs431905518 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431905518(A;A) |
Alt | rs431905518(A;A) |
Reference | Rs431905518(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | SLC26A5 |
CLNDBN | Deafness, autosomal recessive 61 |
Reversed | 1 |
HGVS | NC_000007.13:g.103061268C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000083267.6, |