rs118192101
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs118192101(A;A) |
Make rs118192101(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | MT |
Position | 8313 |
is a | snp |
is | mentioned by |
dbSNP | rs118192101 |
dbSNP (classic) | rs118192101 |
ClinGen | rs118192101 |
ebi | rs118192101 |
HLI | rs118192101 |
Exac | rs118192101 |
Gnomad | rs118192101 |
Varsome | rs118192101 |
LitVar | rs118192101 |
Map | rs118192101 |
PheGenI | rs118192101 |
Biobank | rs118192101 |
1000 genomes | rs118192101 |
hgdp | rs118192101 |
ensembl | rs118192101 |
geneview | rs118192101 |
scholar | rs118192101 |
rs118192101 | |
pharmgkb | rs118192101 |
gwascentral | rs118192101 |
openSNP | rs118192101 |
23andMe | rs118192101 |
SNPshot | rs118192101 |
SNPdbe | rs118192101 |
MSV3d | rs118192101 |
GWAS Ctlg | rs118192101 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs118192101(A;A) |
Alt | rs118192101(A;A) |
Reference | Rs118192101(G;G) |
Significance | Pathogenic |
Disease | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
Variation | info |
Gene | |
CLNDBN | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |
Reversed | 0 |
HGVS | NC_012920.1:m.8313G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010200.5, |