rs397517376
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397517376(-;A) |
Make rs397517376(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 42384006 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs397517376 |
dbSNP (classic) | rs397517376 |
ClinGen | rs397517376 |
ebi | rs397517376 |
HLI | rs397517376 |
Exac | rs397517376 |
Gnomad | rs397517376 |
Varsome | rs397517376 |
LitVar | rs397517376 |
Map | rs397517376 |
PheGenI | rs397517376 |
Biobank | rs397517376 |
1000 genomes | rs397517376 |
hgdp | rs397517376 |
ensembl | rs397517376 |
geneview | rs397517376 |
scholar | rs397517376 |
rs397517376 | |
pharmgkb | rs397517376 |
gwascentral | rs397517376 |
openSNP | rs397517376 |
23andMe | rs397517376 |
SNPshot | rs397517376 |
SNPdbe | rs397517376 |
MSV3d | rs397517376 |
GWAS Ctlg | rs397517376 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517376(A;A) |
Alt | rs397517376(A;A) |
Reference | Rs397517376(-;-) |
Significance | Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | TMPRSS3 |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 1 |
HGVS | NC_000021.8:g.43804116dupT |
CLNSRC | ClinVar |
CLNACC | RCV000039360.2, |