rs142441643
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.2 | Hereditary PGL/PCC Syndrome |
Make rs142441643(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 223509 |
Gene | SDHA |
is a | snp |
is | mentioned by |
dbSNP | rs142441643 |
dbSNP (classic) | rs142441643 |
ClinGen | rs142441643 |
ebi | rs142441643 |
HLI | rs142441643 |
Exac | rs142441643 |
Gnomad | rs142441643 |
Varsome | rs142441643 |
LitVar | rs142441643 |
Map | rs142441643 |
PheGenI | rs142441643 |
Biobank | rs142441643 |
1000 genomes | rs142441643 |
hgdp | rs142441643 |
ensembl | rs142441643 |
geneview | rs142441643 |
scholar | rs142441643 |
rs142441643 | |
pharmgkb | rs142441643 |
gwascentral | rs142441643 |
openSNP | rs142441643 |
23andMe | rs142441643 |
SNPshot | rs142441643 |
SNPdbe | rs142441643 |
MSV3d | rs142441643 |
GWAS Ctlg | rs142441643 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs142441643(T;T) |
Alt | rs142441643(T;T) |
Reference | Rs142441643(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Paragangliomas 5 Carney triad Mitochondrial complex II deficiency not provided |
Variation | info |
Gene | SDHA |
CLNDBN | Hereditary cancer-predisposing syndrome Paragangliomas 5 Carney triad Mitochondrial complex II deficiency not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.223624C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000131808.3, RCV000148026.4, RCV000170328.1, RCV000231830.2, RCV000413945.1, |