rs56264519
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs56264519(C;T) |
Make rs56264519(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 21 |
Position | 42375787 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs56264519 |
dbSNP (classic) | rs56264519 |
ClinGen | rs56264519 |
ebi | rs56264519 |
HLI | rs56264519 |
Exac | rs56264519 |
Gnomad | rs56264519 |
Varsome | rs56264519 |
LitVar | rs56264519 |
Map | rs56264519 |
PheGenI | rs56264519 |
Biobank | rs56264519 |
1000 genomes | rs56264519 |
hgdp | rs56264519 |
ensembl | rs56264519 |
geneview | rs56264519 |
scholar | rs56264519 |
rs56264519 | |
pharmgkb | rs56264519 |
gwascentral | rs56264519 |
openSNP | rs56264519 |
23andMe | rs56264519 |
SNPshot | rs56264519 |
SNPdbe | rs56264519 |
MSV3d | rs56264519 |
GWAS Ctlg | rs56264519 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56264519(T;T) |
Alt | rs56264519(T;T) |
Reference | Rs56264519(C;C) |
Significance | Probable-Pathogenic |
Disease | Deafness Nonsyndromic hearing loss and deafness not provided |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Deafness, autosomal recessive 8 Nonsyndromic hearing loss and deafness not provided |
Reversed | 0 |
HGVS | NC_000021.8:g.43795896C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000039339.5, RCV000211742.1, RCV000428693.1, |