rs763191789
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 5.7 | Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset |
(G;G) | 0 | common/normal |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 96184990 |
Gene | SLC25A13 |
is a | snp |
is | mentioned by |
dbSNP | rs763191789 |
dbSNP (classic) | rs763191789 |
ClinGen | rs763191789 |
ebi | rs763191789 |
HLI | rs763191789 |
Exac | rs763191789 |
Gnomad | rs763191789 |
Varsome | rs763191789 |
LitVar | rs763191789 |
Map | rs763191789 |
PheGenI | rs763191789 |
Biobank | rs763191789 |
1000 genomes | rs763191789 |
hgdp | rs763191789 |
ensembl | rs763191789 |
geneview | rs763191789 |
scholar | rs763191789 |
rs763191789 | |
pharmgkb | rs763191789 |
gwascentral | rs763191789 |
openSNP | rs763191789 |
23andMe | rs763191789 |
SNPshot | rs763191789 |
SNPdbe | rs763191789 |
MSV3d | rs763191789 |
GWAS Ctlg | rs763191789 |
Max Magnitude | 5.7 |
ClinVar | |
---|---|
Risk | Rs763191789(A;A) rs763191789(C;C) |
Alt | Rs763191789(A;A) rs763191789(C;C) |
Reference | Rs763191789(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SLC25A13 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.95814302G>A |
CLNSRC | |
CLNACC | RCV000412829.1, |