rs28939084
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28939084(C;T) |
Make rs28939084(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 42375852 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs28939084 |
dbSNP (classic) | rs28939084 |
ClinGen | rs28939084 |
ebi | rs28939084 |
HLI | rs28939084 |
Exac | rs28939084 |
Gnomad | rs28939084 |
Varsome | rs28939084 |
LitVar | rs28939084 |
Map | rs28939084 |
PheGenI | rs28939084 |
Biobank | rs28939084 |
1000 genomes | rs28939084 |
hgdp | rs28939084 |
ensembl | rs28939084 |
geneview | rs28939084 |
scholar | rs28939084 |
rs28939084 | |
pharmgkb | rs28939084 |
gwascentral | rs28939084 |
openSNP | rs28939084 |
23andMe | rs28939084 |
SNPshot | rs28939084 |
SNPdbe | rs28939084 |
MSV3d | rs28939084 |
GWAS Ctlg | rs28939084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939084(T;T) |
Alt | rs28939084(T;T) |
Reference | Rs28939084(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Deafness, autosomal recessive 8 |
Reversed | 1 |
HGVS | NC_000021.8:g.43795961G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005233.4, |