rs606231426
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs606231426(A;A) |
Make rs606231426(A;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 62671804 |
Gene | LBHD1, UQCC3 |
is a | snp |
is | mentioned by |
dbSNP | rs606231426 |
dbSNP (classic) | rs606231426 |
ClinGen | rs606231426 |
ebi | rs606231426 |
HLI | rs606231426 |
Exac | rs606231426 |
Gnomad | rs606231426 |
Varsome | rs606231426 |
LitVar | rs606231426 |
Map | rs606231426 |
PheGenI | rs606231426 |
Biobank | rs606231426 |
1000 genomes | rs606231426 |
hgdp | rs606231426 |
ensembl | rs606231426 |
geneview | rs606231426 |
scholar | rs606231426 |
rs606231426 | |
pharmgkb | rs606231426 |
gwascentral | rs606231426 |
openSNP | rs606231426 |
23andMe | rs606231426 |
SNPshot | rs606231426 |
SNPdbe | rs606231426 |
MSV3d | rs606231426 |
GWAS Ctlg | rs606231426 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231426(A;A) |
Alt | rs606231426(A;A) |
Reference | Rs606231426(T;T) |
Significance | Pathogenic |
Disease | Mitochondrial complex III deficiency |
Variation | info |
Gene | UQCC3 LBHD1 |
CLNDBN | Mitochondrial complex III deficiency, nuclear type 9 |
Reversed | 0 |
HGVS | NC_000011.9:g.62439276T>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000148301.2, |