rs764153521
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs764153521(A;A) |
Make rs764153521(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 121160302 |
Gene | TECTA |
is a | snp |
is | mentioned by |
dbSNP | rs764153521 |
dbSNP (classic) | rs764153521 |
ClinGen | rs764153521 |
ebi | rs764153521 |
HLI | rs764153521 |
Exac | rs764153521 |
Gnomad | rs764153521 |
Varsome | rs764153521 |
LitVar | rs764153521 |
Map | rs764153521 |
PheGenI | rs764153521 |
Biobank | rs764153521 |
1000 genomes | rs764153521 |
hgdp | rs764153521 |
ensembl | rs764153521 |
geneview | rs764153521 |
scholar | rs764153521 |
rs764153521 | |
pharmgkb | rs764153521 |
gwascentral | rs764153521 |
openSNP | rs764153521 |
23andMe | rs764153521 |
SNPshot | rs764153521 |
SNPdbe | rs764153521 |
MSV3d | rs764153521 |
GWAS Ctlg | rs764153521 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764153521(A;A) rs764153521(T;T) |
Alt | rs764153521(A;A) rs764153521(T;T) |
Reference | Rs764153521(C;C) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TECTA |
CLNDBN | Deafness, autosomal recessive 21 |
Reversed | 0 |
HGVS | NC_000011.9:g.121031011C>A |
CLNSRC | |
CLNACC | RCV000454140.1, |