rs730882189
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTGA;GTGA) | 0 | common in clinvar |
Make rs730882189(-;-) |
Make rs730882189(-;AGTG) |
Make rs730882189(AGTG;AGTG) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 83509186 |
Gene | POU3F4 |
is a | snp |
is | mentioned by |
dbSNP | rs730882189 |
dbSNP (classic) | rs730882189 |
ClinGen | rs730882189 |
ebi | rs730882189 |
HLI | rs730882189 |
Exac | rs730882189 |
Gnomad | rs730882189 |
Varsome | rs730882189 |
LitVar | rs730882189 |
Map | rs730882189 |
PheGenI | rs730882189 |
Biobank | rs730882189 |
1000 genomes | rs730882189 |
hgdp | rs730882189 |
ensembl | rs730882189 |
geneview | rs730882189 |
scholar | rs730882189 |
rs730882189 | |
pharmgkb | rs730882189 |
gwascentral | rs730882189 |
openSNP | rs730882189 |
23andMe | rs730882189 |
SNPshot | rs730882189 |
SNPdbe | rs730882189 |
MSV3d | rs730882189 |
GWAS Ctlg | rs730882189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882189(-;-) |
Alt | rs730882189(-;-) |
Reference | Rs730882189(GTGA;GTGA) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | POU3F4 |
CLNDBN | Deafness, X-linked 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.82764194_82764197delAGTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012447.23, |