rs398124631
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCTATCCA;GCTATCCA) | 0 | common in clinvar |
Make rs398124631(-;-) |
Make rs398124631(-;GCTATCCA) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 146340307 |
Gene | POU4F3 |
is a | snp |
is | mentioned by |
dbSNP | rs398124631 |
dbSNP (classic) | rs398124631 |
ClinGen | rs398124631 |
ebi | rs398124631 |
HLI | rs398124631 |
Exac | rs398124631 |
Gnomad | rs398124631 |
Varsome | rs398124631 |
LitVar | rs398124631 |
Map | rs398124631 |
PheGenI | rs398124631 |
Biobank | rs398124631 |
1000 genomes | rs398124631 |
hgdp | rs398124631 |
ensembl | rs398124631 |
geneview | rs398124631 |
scholar | rs398124631 |
rs398124631 | |
pharmgkb | rs398124631 |
gwascentral | rs398124631 |
openSNP | rs398124631 |
23andMe | rs398124631 |
SNPshot | rs398124631 |
SNPdbe | rs398124631 |
MSV3d | rs398124631 |
GWAS Ctlg | rs398124631 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124631(-;-) |
Alt | rs398124631(-;-) |
Reference | Rs398124631(GCTATCCA;GCTATCCA) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | POU4F3 |
CLNDBN | Deafness, autosomal dominant 15 |
Reversed | 0 |
HGVS | NC_000005.9:g.145719870_145719877delGCTATCCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007494.3, |