rs202198133
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs202198133(A;A) |
Make rs202198133(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 112088902 |
Gene | SDHD |
is a | snp |
is | mentioned by |
dbSNP | rs202198133 |
dbSNP (classic) | rs202198133 |
ClinGen | rs202198133 |
ebi | rs202198133 |
HLI | rs202198133 |
Exac | rs202198133 |
Gnomad | rs202198133 |
Varsome | rs202198133 |
LitVar | rs202198133 |
Map | rs202198133 |
PheGenI | rs202198133 |
Biobank | rs202198133 |
1000 genomes | rs202198133 |
hgdp | rs202198133 |
ensembl | rs202198133 |
geneview | rs202198133 |
scholar | rs202198133 |
rs202198133 | |
pharmgkb | rs202198133 |
gwascentral | rs202198133 |
openSNP | rs202198133 |
23andMe | rs202198133 |
SNPshot | rs202198133 |
SNPdbe | rs202198133 |
MSV3d | rs202198133 |
GWAS Ctlg | rs202198133 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202198133(A;A) |
Alt | rs202198133(A;A) |
Reference | Rs202198133(G;G) |
Significance | Pathogenic |
Disease | Mitochondrial complex II deficiency not provided |
Variation | info |
Gene | SDHD |
CLNDBN | Mitochondrial complex II deficiency not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.111959626G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144171.3, RCV000484125.1, |