rs121912639
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912639(C;T) |
Make rs121912639(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 68033165 |
Gene | MIR4691, MIR7113, NDUFS8 |
is a | snp |
is | mentioned by |
dbSNP | rs121912639 |
dbSNP (classic) | rs121912639 |
ClinGen | rs121912639 |
ebi | rs121912639 |
HLI | rs121912639 |
Exac | rs121912639 |
Gnomad | rs121912639 |
Varsome | rs121912639 |
LitVar | rs121912639 |
Map | rs121912639 |
PheGenI | rs121912639 |
Biobank | rs121912639 |
1000 genomes | rs121912639 |
hgdp | rs121912639 |
ensembl | rs121912639 |
geneview | rs121912639 |
scholar | rs121912639 |
rs121912639 | |
pharmgkb | rs121912639 |
gwascentral | rs121912639 |
openSNP | rs121912639 |
23andMe | rs121912639 |
SNPshot | rs121912639 |
SNPdbe | rs121912639 |
MSV3d | rs121912639 |
GWAS Ctlg | rs121912639 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912639(T;T) |
Alt | rs121912639(T;T) |
Reference | Rs121912639(C;C) |
Significance | Pathogenic |
Disease | Mitochondrial complex I deficiency |
Variation | info |
Gene | MIR7113 MIR4691 NDUFS8 |
CLNDBN | Mitochondrial complex I deficiency |
Reversed | 0 |
HGVS | NC_000011.9:g.67800632C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007943.3, |