rs3888511
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs3888511(G;G) |
Make rs3888511(G;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 961 |
is a | snp |
is | mentioned by |
dbSNP | rs3888511 |
dbSNP (classic) | rs3888511 |
ClinGen | rs3888511 |
ebi | rs3888511 |
HLI | rs3888511 |
Exac | rs3888511 |
Gnomad | rs3888511 |
Varsome | rs3888511 |
LitVar | rs3888511 |
Map | rs3888511 |
PheGenI | rs3888511 |
Biobank | rs3888511 |
1000 genomes | rs3888511 |
hgdp | rs3888511 |
ensembl | rs3888511 |
geneview | rs3888511 |
scholar | rs3888511 |
rs3888511 | |
pharmgkb | rs3888511 |
gwascentral | rs3888511 |
openSNP | rs3888511 |
23andMe | rs3888511 |
SNPshot | rs3888511 |
SNPdbe | rs3888511 |
MSV3d | rs3888511 |
GWAS Ctlg | rs3888511 |
GMAF | 0.01029 |
Max Magnitude | 0 |
[PMID 15286157] Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.
ClinVar | |
---|---|
Risk | rs3888511(C;C) rs3888511(G;G) |
Alt | rs3888511(C;C) rs3888511(G;G) |
Reference | Rs3888511(T;T) |
Significance | Other |
Disease | not specified Deafness |
Variation | info |
Gene | |
CLNDBN | not specified Deafness, nonsyndromic sensorineural, mitochondrial |
Reversed | 0 |
HGVS | NC_012920.1:m.961T>C; NC_012920.1:m.961T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000035061.2, RCV000010264.2, RCV000035062.3, |