rs397517866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397517866(G;T) |
Make rs397517866(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 46709165 |
Gene | TMIE |
is a | snp |
is | mentioned by |
dbSNP | rs397517866 |
dbSNP (classic) | rs397517866 |
ClinGen | rs397517866 |
ebi | rs397517866 |
HLI | rs397517866 |
Exac | rs397517866 |
Gnomad | rs397517866 |
Varsome | rs397517866 |
LitVar | rs397517866 |
Map | rs397517866 |
PheGenI | rs397517866 |
Biobank | rs397517866 |
1000 genomes | rs397517866 |
hgdp | rs397517866 |
ensembl | rs397517866 |
geneview | rs397517866 |
scholar | rs397517866 |
rs397517866 | |
pharmgkb | rs397517866 |
gwascentral | rs397517866 |
openSNP | rs397517866 |
23andMe | rs397517866 |
SNPshot | rs397517866 |
SNPdbe | rs397517866 |
MSV3d | rs397517866 |
GWAS Ctlg | rs397517866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397517866(A;A) rs397517866(T;T) |
Alt | rs397517866(A;A) rs397517866(T;T) |
Reference | Rs397517866(G;G) |
Significance | Probable-Pathogenic |
Disease | Nonsyndromic hearing loss and deafness |
Variation | info |
Gene | TMIE |
CLNDBN | Nonsyndromic hearing loss and deafness |
Reversed | 0 |
HGVS | NC_000003.11:g.46750655G>T |
CLNSRC | ClinVar |
CLNACC | RCV000041230.2, |