rs267607120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267607120(A;A) |
Make rs267607120(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 46705866 |
Gene | TMIE |
is a | snp |
is | mentioned by |
dbSNP | rs267607120 |
dbSNP (classic) | rs267607120 |
ClinGen | rs267607120 |
ebi | rs267607120 |
HLI | rs267607120 |
Exac | rs267607120 |
Gnomad | rs267607120 |
Varsome | rs267607120 |
LitVar | rs267607120 |
Map | rs267607120 |
PheGenI | rs267607120 |
Biobank | rs267607120 |
1000 genomes | rs267607120 |
hgdp | rs267607120 |
ensembl | rs267607120 |
geneview | rs267607120 |
scholar | rs267607120 |
rs267607120 | |
pharmgkb | rs267607120 |
gwascentral | rs267607120 |
openSNP | rs267607120 |
23andMe | rs267607120 |
SNPshot | rs267607120 |
SNPdbe | rs267607120 |
MSV3d | rs267607120 |
GWAS Ctlg | rs267607120 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607120(A;A) |
Alt | rs267607120(A;A) |
Reference | Rs267607120(G;G) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | TMIE |
CLNDBN | Deafness, autosomal recessive 6 |
Reversed | 0 |
HGVS | NC_000003.11:g.46747356G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003561.4, |