rs878853242
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs878853242(C;T) |
Make rs878853242(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 83508559 |
Gene | LOC107985635, POU3F4 |
is a | snp |
is | mentioned by |
dbSNP | rs878853242 |
dbSNP (classic) | rs878853242 |
ClinGen | rs878853242 |
ebi | rs878853242 |
HLI | rs878853242 |
Exac | rs878853242 |
Gnomad | rs878853242 |
Varsome | rs878853242 |
LitVar | rs878853242 |
Map | rs878853242 |
PheGenI | rs878853242 |
Biobank | rs878853242 |
1000 genomes | rs878853242 |
hgdp | rs878853242 |
ensembl | rs878853242 |
geneview | rs878853242 |
scholar | rs878853242 |
rs878853242 | |
pharmgkb | rs878853242 |
gwascentral | rs878853242 |
openSNP | rs878853242 |
23andMe | rs878853242 |
SNPshot | rs878853242 |
SNPdbe | rs878853242 |
MSV3d | rs878853242 |
GWAS Ctlg | rs878853242 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878853242(T;T) |
Alt | rs878853242(T;T) |
Reference | Rs878853242(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | POU3F4 |
CLNDBN | Deafness, X-linked 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.82763567C>T |
CLNSRC | |
CLNACC | RCV000225042.1, |