rs11544803
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs11544803(C;T) |
Make rs11544803(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 132867015 |
Gene | GDF9, UQCRQ |
is a | snp |
is | mentioned by |
dbSNP | rs11544803 |
dbSNP (classic) | rs11544803 |
ClinGen | rs11544803 |
ebi | rs11544803 |
HLI | rs11544803 |
Exac | rs11544803 |
Gnomad | rs11544803 |
Varsome | rs11544803 |
LitVar | rs11544803 |
Map | rs11544803 |
PheGenI | rs11544803 |
Biobank | rs11544803 |
1000 genomes | rs11544803 |
hgdp | rs11544803 |
ensembl | rs11544803 |
geneview | rs11544803 |
scholar | rs11544803 |
rs11544803 | |
pharmgkb | rs11544803 |
gwascentral | rs11544803 |
openSNP | rs11544803 |
23andMe | rs11544803 |
SNPshot | rs11544803 |
SNPdbe | rs11544803 |
MSV3d | rs11544803 |
GWAS Ctlg | rs11544803 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs11544803(T;T) |
Alt | rs11544803(T;T) |
Reference | Rs11544803(C;C) |
Significance | Pathogenic |
Disease | Mitochondrial complex III deficiency not provided |
Variation | info |
Gene | GDF9 UQCRQ |
CLNDBN | Mitochondrial complex III deficiency, nuclear type 4 not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.132202707C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000765.3, RCV000437264.1, |