rs863224892
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863224892(A;A) |
Make rs863224892(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 99162763 |
Gene | LIPT1, MITD1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224892 |
dbSNP (classic) | rs863224892 |
ClinGen | rs863224892 |
ebi | rs863224892 |
HLI | rs863224892 |
Exac | rs863224892 |
Gnomad | rs863224892 |
Varsome | rs863224892 |
LitVar | rs863224892 |
Map | rs863224892 |
PheGenI | rs863224892 |
Biobank | rs863224892 |
1000 genomes | rs863224892 |
hgdp | rs863224892 |
ensembl | rs863224892 |
geneview | rs863224892 |
scholar | rs863224892 |
rs863224892 | |
pharmgkb | rs863224892 |
gwascentral | rs863224892 |
openSNP | rs863224892 |
23andMe | rs863224892 |
SNPshot | rs863224892 |
SNPdbe | rs863224892 |
MSV3d | rs863224892 |
GWAS Ctlg | rs863224892 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224892(A;A) |
Alt | rs863224892(A;A) |
Reference | Rs863224892(G;G) |
Significance | Pathogenic |
Disease | Lipoyltransferase 1 deficiency |
Variation | info |
Gene | LIPT1 |
CLNDBN | Lipoyltransferase 1 deficiency |
Reversed | 0 |
HGVS | NC_000002.11:g.99779226G>A |
CLNSRC | |
CLNACC | RCV000197242.1, |