rs431905517
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs431905517(A;C) |
Make rs431905517(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 103413015 |
Gene | SLC26A5 |
is a | snp |
is | mentioned by |
dbSNP | rs431905517 |
dbSNP (classic) | rs431905517 |
ClinGen | rs431905517 |
ebi | rs431905517 |
HLI | rs431905517 |
Exac | rs431905517 |
Gnomad | rs431905517 |
Varsome | rs431905517 |
LitVar | rs431905517 |
Map | rs431905517 |
PheGenI | rs431905517 |
Biobank | rs431905517 |
1000 genomes | rs431905517 |
hgdp | rs431905517 |
ensembl | rs431905517 |
geneview | rs431905517 |
scholar | rs431905517 |
rs431905517 | |
pharmgkb | rs431905517 |
gwascentral | rs431905517 |
openSNP | rs431905517 |
23andMe | rs431905517 |
SNPshot | rs431905517 |
SNPdbe | rs431905517 |
MSV3d | rs431905517 |
GWAS Ctlg | rs431905517 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431905517(C;C) |
Alt | rs431905517(C;C) |
Reference | Rs431905517(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | SLC26A5 |
CLNDBN | Deafness, autosomal recessive 61 |
Reversed | 1 |
HGVS | NC_000007.13:g.103053462T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000083266.6, |