rs387906733
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs387906733(C;C) |
Make rs387906733(C;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 12201 |
is a | snp |
is | mentioned by |
dbSNP | rs387906733 |
dbSNP (classic) | rs387906733 |
ClinGen | rs387906733 |
ebi | rs387906733 |
HLI | rs387906733 |
Exac | rs387906733 |
Gnomad | rs387906733 |
Varsome | rs387906733 |
LitVar | rs387906733 |
Map | rs387906733 |
PheGenI | rs387906733 |
Biobank | rs387906733 |
1000 genomes | rs387906733 |
hgdp | rs387906733 |
ensembl | rs387906733 |
geneview | rs387906733 |
scholar | rs387906733 |
rs387906733 | |
pharmgkb | rs387906733 |
gwascentral | rs387906733 |
openSNP | rs387906733 |
23andMe | rs387906733 |
SNPshot | rs387906733 |
SNPdbe | rs387906733 |
MSV3d | rs387906733 |
GWAS Ctlg | rs387906733 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906733(C;C) |
Alt | rs387906733(C;C) |
Reference | Rs387906733(T;T) |
Significance | Pathogenic |
Disease | Deafness |
Variation | info |
Gene | |
CLNDBN | Deafness, nonsyndromic sensorineural, mitochondrial |
Reversed | 0 |
HGVS | NC_012920.1:m.12201T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022899.2, |