rs398122517
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs398122517(-;-) |
Make rs398122517(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 83509384 |
Gene | POU3F4 |
is a | snp |
is | mentioned by |
dbSNP | rs398122517 |
dbSNP (classic) | rs398122517 |
ClinGen | rs398122517 |
ebi | rs398122517 |
HLI | rs398122517 |
Exac | rs398122517 |
Gnomad | rs398122517 |
Varsome | rs398122517 |
LitVar | rs398122517 |
Map | rs398122517 |
PheGenI | rs398122517 |
Biobank | rs398122517 |
1000 genomes | rs398122517 |
hgdp | rs398122517 |
ensembl | rs398122517 |
geneview | rs398122517 |
scholar | rs398122517 |
rs398122517 | |
pharmgkb | rs398122517 |
gwascentral | rs398122517 |
openSNP | rs398122517 |
23andMe | rs398122517 |
SNPshot | rs398122517 |
SNPdbe | rs398122517 |
MSV3d | rs398122517 |
GWAS Ctlg | rs398122517 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122517(-;-) |
Alt | rs398122517(-;-) |
Reference | Rs398122517(A;A) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | POU3F4 |
CLNDBN | Deafness, X-linked 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.82764392delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000034344.16, |