rs727504304
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727504304(C;T) |
Make rs727504304(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 21 |
Position | 42376543 |
Gene | TMPRSS3 |
is a | snp |
is | mentioned by |
dbSNP | rs727504304 |
dbSNP (classic) | rs727504304 |
ClinGen | rs727504304 |
ebi | rs727504304 |
HLI | rs727504304 |
Exac | rs727504304 |
Gnomad | rs727504304 |
Varsome | rs727504304 |
LitVar | rs727504304 |
Map | rs727504304 |
PheGenI | rs727504304 |
Biobank | rs727504304 |
1000 genomes | rs727504304 |
hgdp | rs727504304 |
ensembl | rs727504304 |
geneview | rs727504304 |
scholar | rs727504304 |
rs727504304 | |
pharmgkb | rs727504304 |
gwascentral | rs727504304 |
openSNP | rs727504304 |
23andMe | rs727504304 |
SNPshot | rs727504304 |
SNPdbe | rs727504304 |
MSV3d | rs727504304 |
GWAS Ctlg | rs727504304 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504304(T;T) |
Alt | rs727504304(T;T) |
Reference | Rs727504304(C;C) |
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.43796652G>A |
CLNSRC | |
CLNACC | RCV000154351.1, |