rs137853193
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137853193(C;C) |
Make rs137853193(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35995438 |
Gene | SDHAF1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853193 |
dbSNP (classic) | rs137853193 |
ClinGen | rs137853193 |
ebi | rs137853193 |
HLI | rs137853193 |
Exac | rs137853193 |
Gnomad | rs137853193 |
Varsome | rs137853193 |
LitVar | rs137853193 |
Map | rs137853193 |
PheGenI | rs137853193 |
Biobank | rs137853193 |
1000 genomes | rs137853193 |
hgdp | rs137853193 |
ensembl | rs137853193 |
geneview | rs137853193 |
scholar | rs137853193 |
rs137853193 | |
pharmgkb | rs137853193 |
gwascentral | rs137853193 |
openSNP | rs137853193 |
23andMe | rs137853193 |
SNPshot | rs137853193 |
SNPdbe | rs137853193 |
MSV3d | rs137853193 |
GWAS Ctlg | rs137853193 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853193(A;A) rs137853193(C;C) |
Alt | rs137853193(A;A) rs137853193(C;C) |
Reference | Rs137853193(G;G) |
Significance | Pathogenic |
Disease | Mitochondrial complex II deficiency |
Variation | info |
Gene | SDHAF1 |
CLNDBN | Mitochondrial complex II deficiency |
Reversed | 0 |
HGVS | NC_000019.9:g.36486340G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000458.2, |