rs398124308
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124308(-;AGTG) |
Make rs398124308(AGTG;AGTG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 126275005 |
Gene | FOXRED1 |
is a | snp |
is | mentioned by |
dbSNP | rs398124308 |
dbSNP (classic) | rs398124308 |
ClinGen | rs398124308 |
ebi | rs398124308 |
HLI | rs398124308 |
Exac | rs398124308 |
Gnomad | rs398124308 |
Varsome | rs398124308 |
LitVar | rs398124308 |
Map | rs398124308 |
PheGenI | rs398124308 |
Biobank | rs398124308 |
1000 genomes | rs398124308 |
hgdp | rs398124308 |
ensembl | rs398124308 |
geneview | rs398124308 |
scholar | rs398124308 |
rs398124308 | |
pharmgkb | rs398124308 |
gwascentral | rs398124308 |
openSNP | rs398124308 |
23andMe | rs398124308 |
SNPshot | rs398124308 |
SNPdbe | rs398124308 |
MSV3d | rs398124308 |
GWAS Ctlg | rs398124308 |
Merged from | Rs797045091 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124308(AGTG;AGTG) rs398124308(GAGT;GAGT) |
Alt | rs398124308(AGTG;AGTG) rs398124308(GAGT;GAGT) |
Reference | Rs398124308(-;-) |
Significance | Pathogenic |
Disease | not provided Mitochondrial complex I deficiency |
Variation | info |
Gene | FOXRED1 |
CLNDBN | not provided Mitochondrial complex I deficiency |
Reversed | 0 |
HGVS | NC_000011.9:g.126144897_126144900dupAGTG |
CLNSRC | HGMD |
CLNACC | RCV000081797.5, RCV000190588.2, |