rs794727621
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs794727621(C;C) |
Make rs794727621(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | X |
Position | 19351300 |
Gene | PDHA1 |
is a | snp |
is | mentioned by |
dbSNP | rs794727621 |
dbSNP (classic) | rs794727621 |
ClinGen | rs794727621 |
ebi | rs794727621 |
HLI | rs794727621 |
Exac | rs794727621 |
Gnomad | rs794727621 |
Varsome | rs794727621 |
LitVar | rs794727621 |
Map | rs794727621 |
PheGenI | rs794727621 |
Biobank | rs794727621 |
1000 genomes | rs794727621 |
hgdp | rs794727621 |
ensembl | rs794727621 |
geneview | rs794727621 |
scholar | rs794727621 |
rs794727621 | |
pharmgkb | rs794727621 |
gwascentral | rs794727621 |
openSNP | rs794727621 |
23andMe | rs794727621 |
SNPshot | rs794727621 |
SNPdbe | rs794727621 |
MSV3d | rs794727621 |
GWAS Ctlg | rs794727621 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727621(C;C) |
Alt | rs794727621(C;C) |
Reference | Rs794727621(T;T) |
Significance | Probable-Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | PDHA1 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000023.10:g.19369418T>C |
CLNSRC | |
CLNACC | RCV000178069.3, RCV000259128.1, |