rs1064792854
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCTCGCTGAGCCAA;GCTCGCTGAGCCAA) | 0 | common in clinvar |
Chromosome | 5 |
Position | 146340089 |
Gene | POU4F3 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792854 |
dbSNP (classic) | rs1064792854 |
ClinGen | rs1064792854 |
ebi | rs1064792854 |
HLI | rs1064792854 |
Exac | rs1064792854 |
Gnomad | rs1064792854 |
Varsome | rs1064792854 |
LitVar | rs1064792854 |
Map | rs1064792854 |
PheGenI | rs1064792854 |
Biobank | rs1064792854 |
1000 genomes | rs1064792854 |
hgdp | rs1064792854 |
ensembl | rs1064792854 |
geneview | rs1064792854 |
scholar | rs1064792854 |
rs1064792854 | |
pharmgkb | rs1064792854 |
gwascentral | rs1064792854 |
openSNP | rs1064792854 |
23andMe | rs1064792854 |
SNPshot | rs1064792854 |
SNPdbe | rs1064792854 |
MSV3d | rs1064792854 |
GWAS Ctlg | rs1064792854 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792854(-;-) |
Alt | rs1064792854(-;-) |
Reference | Rs1064792854(GCTCGCTGAGCCAA;GCTCGCTGAGCCAA) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | POU4F3 |
CLNDBN | Deafness, autosomal dominant 15 |
Reversed | 0 |
HGVS | NC_000005.9:g.145719652_145719665delGCTCGCTGAGCCAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000087754.3, |