rs727505273
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TTC;TTC) | 0 | common in clinvar |
Make rs727505273(-;-) |
Make rs727505273(-;TTC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 24706389 |
Gene | DFNA5 |
is a | snp |
is | mentioned by |
dbSNP | rs727505273 |
dbSNP (classic) | rs727505273 |
ClinGen | rs727505273 |
ebi | rs727505273 |
HLI | rs727505273 |
Exac | rs727505273 |
Gnomad | rs727505273 |
Varsome | rs727505273 |
LitVar | rs727505273 |
Map | rs727505273 |
PheGenI | rs727505273 |
Biobank | rs727505273 |
1000 genomes | rs727505273 |
hgdp | rs727505273 |
ensembl | rs727505273 |
geneview | rs727505273 |
scholar | rs727505273 |
rs727505273 | |
pharmgkb | rs727505273 |
gwascentral | rs727505273 |
openSNP | rs727505273 |
23andMe | rs727505273 |
SNPshot | rs727505273 |
SNPdbe | rs727505273 |
MSV3d | rs727505273 |
GWAS Ctlg | rs727505273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727505273(-;-) |
Alt | rs727505273(-;-) |
Reference | Rs727505273(TTC;TTC) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | DFNA5 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000007.13:g.24746008_24746010delGAA |
CLNSRC | |
CLNACC | RCV000156800.1, |