rs549095193
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs549095193(A;A) |
Make rs549095193(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 22 |
Position | 37725611 |
Gene | TRIOBP |
is a | snp |
is | mentioned by |
dbSNP | rs549095193 |
dbSNP (classic) | rs549095193 |
ClinGen | rs549095193 |
ebi | rs549095193 |
HLI | rs549095193 |
Exac | rs549095193 |
Gnomad | rs549095193 |
Varsome | rs549095193 |
LitVar | rs549095193 |
Map | rs549095193 |
PheGenI | rs549095193 |
Biobank | rs549095193 |
1000 genomes | rs549095193 |
hgdp | rs549095193 |
ensembl | rs549095193 |
geneview | rs549095193 |
scholar | rs549095193 |
rs549095193 | |
pharmgkb | rs549095193 |
gwascentral | rs549095193 |
openSNP | rs549095193 |
23andMe | rs549095193 |
SNPshot | rs549095193 |
SNPdbe | rs549095193 |
MSV3d | rs549095193 |
GWAS Ctlg | rs549095193 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs549095193(A;A) rs549095193(T;T) |
Alt | rs549095193(A;A) rs549095193(T;T) |
Reference | Rs549095193(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TRIOBP |
CLNDBN | Deafness, autosomal recessive 28 |
Reversed | 0 |
HGVS | NC_000022.10:g.38121618G>A |
CLNSRC | |
CLNACC | RCV000454135.1, |