rs730880359
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;GGAGG) | 3 | Carrier of a DFNB7/11 deafness mutation |
Make rs730880359(GGAGG;GGAGG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 72694697 |
Gene | TMC1 |
is a | snp |
is | mentioned by |
dbSNP | rs730880359 |
dbSNP (classic) | rs730880359 |
ClinGen | rs730880359 |
ebi | rs730880359 |
HLI | rs730880359 |
Exac | rs730880359 |
Gnomad | rs730880359 |
Varsome | rs730880359 |
LitVar | rs730880359 |
Map | rs730880359 |
PheGenI | rs730880359 |
Biobank | rs730880359 |
1000 genomes | rs730880359 |
hgdp | rs730880359 |
ensembl | rs730880359 |
geneview | rs730880359 |
scholar | rs730880359 |
rs730880359 | |
pharmgkb | rs730880359 |
gwascentral | rs730880359 |
openSNP | rs730880359 |
23andMe | rs730880359 |
SNPshot | rs730880359 |
SNPdbe | rs730880359 |
MSV3d | rs730880359 |
GWAS Ctlg | rs730880359 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs730880359(GGAGG;GGAGG) |
Alt | rs730880359(GGAGG;GGAGG) |
Reference | Rs730880359(-;-) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | TMC1 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000009.11:g.75309609_75309613dupGGAGG |
CLNSRC | |
CLNACC | RCV000156220.1, |