rs758609113
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs758609113(C;T) |
Make rs758609113(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 94617839 |
Gene | FBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs758609113 |
dbSNP (classic) | rs758609113 |
ClinGen | rs758609113 |
ebi | rs758609113 |
HLI | rs758609113 |
Exac | rs758609113 |
Gnomad | rs758609113 |
Varsome | rs758609113 |
LitVar | rs758609113 |
Map | rs758609113 |
PheGenI | rs758609113 |
Biobank | rs758609113 |
1000 genomes | rs758609113 |
hgdp | rs758609113 |
ensembl | rs758609113 |
geneview | rs758609113 |
scholar | rs758609113 |
rs758609113 | |
pharmgkb | rs758609113 |
gwascentral | rs758609113 |
openSNP | rs758609113 |
23andMe | rs758609113 |
SNPshot | rs758609113 |
SNPdbe | rs758609113 |
MSV3d | rs758609113 |
GWAS Ctlg | rs758609113 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758609113(T;T) |
Alt | rs758609113(T;T) |
Reference | Rs758609113(C;C) |
Significance | Pathogenic |
Disease | not provided Fructose-biphosphatase deficiency |
Variation | info |
Gene | FBP1 |
CLNDBN | not provided Fructose-biphosphatase deficiency |
Reversed | 0 |
HGVS | NC_000009.11:g.97380121C>T |
CLNSRC | |
CLNACC | RCV000198086.1, RCV000456119.1, |