rs201372601
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201372601(G;T) |
Make rs201372601(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 112094969 |
Gene | SDHD |
is a | snp |
is | mentioned by |
dbSNP | rs201372601 |
dbSNP (classic) | rs201372601 |
ClinGen | rs201372601 |
ebi | rs201372601 |
HLI | rs201372601 |
Exac | rs201372601 |
Gnomad | rs201372601 |
Varsome | rs201372601 |
LitVar | rs201372601 |
Map | rs201372601 |
PheGenI | rs201372601 |
Biobank | rs201372601 |
1000 genomes | rs201372601 |
hgdp | rs201372601 |
ensembl | rs201372601 |
geneview | rs201372601 |
scholar | rs201372601 |
rs201372601 | |
pharmgkb | rs201372601 |
gwascentral | rs201372601 |
openSNP | rs201372601 |
23andMe | rs201372601 |
SNPshot | rs201372601 |
SNPdbe | rs201372601 |
MSV3d | rs201372601 |
GWAS Ctlg | rs201372601 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201372601(T;T) |
Alt | rs201372601(T;T) |
Reference | Rs201372601(G;G) |
Significance | Pathogenic |
Disease | Mitochondrial complex II deficiency not specified Cowden syndrome 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1 Pheochromocytoma |
Variation | info |
Gene | SDHD |
CLNDBN | Mitochondrial complex II deficiency not specified Cowden syndrome 3 Paraganglioma and gastric stromal sarcoma Paragangliomas 1 Pheochromocytoma |
Reversed | 0 |
HGVS | NC_000011.9:g.111965693G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144172.4, RCV000454533.1, RCV000476218.1, |