rs386508207
From SNPedia
Merged into | rs28358569 |
Orientation | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs386508207(A;A) |
Make rs386508207(A;G) |
Make rs386508207(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 827 |
is a | snp |
is | mentioned by |
dbSNP | rs386508207 |
dbSNP (classic) | rs386508207 |
ClinGen | rs386508207 |
ebi | rs386508207 |
HLI | rs386508207 |
Exac | rs386508207 |
Gnomad | rs386508207 |
Varsome | rs386508207 |
LitVar | rs386508207 |
Map | rs386508207 |
PheGenI | rs386508207 |
Biobank | rs386508207 |
1000 genomes | rs386508207 |
hgdp | rs386508207 |
ensembl | rs386508207 |
geneview | rs386508207 |
scholar | rs386508207 |
rs386508207 | |
pharmgkb | rs386508207 |
gwascentral | rs386508207 |
openSNP | rs386508207 |
23andMe | rs386508207 |
SNPshot | rs386508207 |
SNPdbe | rs386508207 |
MSV3d | rs386508207 |
GWAS Ctlg | rs386508207 |
Status | Merged into rs28358569 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386508207(C;C) |
Alt | rs386508207(C;C) |
Reference | Rs386508207(T;T) |
Significance | Pathogenic |
Disease | Deafness Aminoglycoside-induced deafness |
Variation | info |
Gene | |
CLNDBN | Deafness, nonsyndromic sensorineural, mitochondrial Aminoglycoside-induced deafness |
Reversed | 1 |
HGVS | NC_012920.1:m.827A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010265.1, RCV000010266.1, |