rs80358274
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80358274(A;A) |
Make rs80358274(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 40819416 |
Gene | KCNQ4 |
is a | snp |
is | mentioned by |
dbSNP | rs80358274 |
dbSNP (classic) | rs80358274 |
ClinGen | rs80358274 |
ebi | rs80358274 |
HLI | rs80358274 |
Exac | rs80358274 |
Gnomad | rs80358274 |
Varsome | rs80358274 |
LitVar | rs80358274 |
Map | rs80358274 |
PheGenI | rs80358274 |
Biobank | rs80358274 |
1000 genomes | rs80358274 |
hgdp | rs80358274 |
ensembl | rs80358274 |
geneview | rs80358274 |
scholar | rs80358274 |
rs80358274 | |
pharmgkb | rs80358274 |
gwascentral | rs80358274 |
openSNP | rs80358274 |
23andMe | rs80358274 |
SNPshot | rs80358274 |
SNPdbe | rs80358274 |
MSV3d | rs80358274 |
GWAS Ctlg | rs80358274 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80358274(A;A) |
Alt | rs80358274(A;A) |
Reference | Rs80358274(G;G) |
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.41285088G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020611.1, |