rs137853251
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TAAG;TAAG) | 0 | common in clinvar |
Make rs137853251(-;-) |
Make rs137853251(-;G) |
Make rs137853251(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 19358953 |
Gene | PDHA1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853251 |
dbSNP (classic) | rs137853251 |
ClinGen | rs137853251 |
ebi | rs137853251 |
HLI | rs137853251 |
Exac | rs137853251 |
Gnomad | rs137853251 |
Varsome | rs137853251 |
LitVar | rs137853251 |
Map | rs137853251 |
PheGenI | rs137853251 |
Biobank | rs137853251 |
1000 genomes | rs137853251 |
hgdp | rs137853251 |
ensembl | rs137853251 |
geneview | rs137853251 |
scholar | rs137853251 |
rs137853251 | |
pharmgkb | rs137853251 |
gwascentral | rs137853251 |
openSNP | rs137853251 |
23andMe | rs137853251 |
SNPshot | rs137853251 |
SNPdbe | rs137853251 |
MSV3d | rs137853251 |
GWAS Ctlg | rs137853251 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853251(-;-) |
Alt | rs137853251(-;-) |
Reference | Rs137853251(AAG;AAG) |
Significance | Pathogenic |
Disease | Pyruvate dehydrogenase E1-alpha deficiency |
Variation | info |
Gene | PDHA1 |
CLNDBN | Pyruvate dehydrogenase E1-alpha deficiency |
Reversed | 0 |
HGVS | NC_000023.10:g.19377071_19377073delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000011621.4, |