rs772135867
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs772135867(C;T) |
Make rs772135867(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 40838474 |
Gene | KCNQ4 |
is a | snp |
is | mentioned by |
dbSNP | rs772135867 |
dbSNP (classic) | rs772135867 |
ClinGen | rs772135867 |
ebi | rs772135867 |
HLI | rs772135867 |
Exac | rs772135867 |
Gnomad | rs772135867 |
Varsome | rs772135867 |
LitVar | rs772135867 |
Map | rs772135867 |
PheGenI | rs772135867 |
Biobank | rs772135867 |
1000 genomes | rs772135867 |
hgdp | rs772135867 |
ensembl | rs772135867 |
geneview | rs772135867 |
scholar | rs772135867 |
rs772135867 | |
pharmgkb | rs772135867 |
gwascentral | rs772135867 |
openSNP | rs772135867 |
23andMe | rs772135867 |
SNPshot | rs772135867 |
SNPdbe | rs772135867 |
MSV3d | rs772135867 |
GWAS Ctlg | rs772135867 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772135867(T;T) |
Alt | rs772135867(T;T) |
Reference | Rs772135867(C;C) |
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.41304146C>T |
CLNSRC | |
CLNACC | RCV000192858.1, |