rs80358275
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs80358275(A;T) |
Make rs80358275(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 40819423 |
Gene | KCNQ4 |
is a | snp |
is | mentioned by |
dbSNP | rs80358275 |
dbSNP (classic) | rs80358275 |
ClinGen | rs80358275 |
ebi | rs80358275 |
HLI | rs80358275 |
Exac | rs80358275 |
Gnomad | rs80358275 |
Varsome | rs80358275 |
LitVar | rs80358275 |
Map | rs80358275 |
PheGenI | rs80358275 |
Biobank | rs80358275 |
1000 genomes | rs80358275 |
hgdp | rs80358275 |
ensembl | rs80358275 |
geneview | rs80358275 |
scholar | rs80358275 |
rs80358275 | |
pharmgkb | rs80358275 |
gwascentral | rs80358275 |
openSNP | rs80358275 |
23andMe | rs80358275 |
SNPshot | rs80358275 |
SNPdbe | rs80358275 |
MSV3d | rs80358275 |
GWAS Ctlg | rs80358275 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358275(T;T) |
Alt | rs80358275(T;T) |
Reference | Rs80358275(A;A) |
Significance | Pathogenic |
Disease | DFNA 2 Nonsyndromic Hearing Loss |
Variation | info |
Gene | KCNQ4 |
CLNDBN | DFNA 2 Nonsyndromic Hearing Loss |
Reversed | 0 |
HGVS | NC_000001.10:g.41285095A>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020612.1, |