rs754554
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs754554(A;A) |
Make rs754554(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 24719199 |
Gene | DFNA5 |
is a | snp |
is | mentioned by |
dbSNP | rs754554 |
dbSNP (classic) | rs754554 |
ClinGen | rs754554 |
ebi | rs754554 |
HLI | rs754554 |
Exac | rs754554 |
Gnomad | rs754554 |
Varsome | rs754554 |
LitVar | rs754554 |
Map | rs754554 |
PheGenI | rs754554 |
Biobank | rs754554 |
1000 genomes | rs754554 |
hgdp | rs754554 |
ensembl | rs754554 |
geneview | rs754554 |
scholar | rs754554 |
rs754554 | |
pharmgkb | rs754554 |
gwascentral | rs754554 |
openSNP | rs754554 |
23andMe | rs754554 |
SNPshot | rs754554 |
SNPdbe | rs754554 |
MSV3d | rs754554 |
GWAS Ctlg | rs754554 |
GMAF | 0.242 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs754554(A;A) rs754554(G;G) |
Alt | rs754554(A;A) rs754554(G;G) |
Reference | Rs754554(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Nonsyndromic Hearing Loss |
Variation | info |
Gene | DFNA5 |
CLNDBN | not specified Nonsyndromic Hearing Loss, Mixed |
Reversed | 1 |
HGVS | NC_000007.13:g.24758818G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000037974.2, RCV000279194.1, |