rs757653154
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(I;I) | 1 | Miscall by Ancestry; 75% of v2d-chip users are told they have this genotype |
Make rs757653154(-;C) |
Make rs757653154(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 94603437 |
Gene | FBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs757653154 |
dbSNP (classic) | rs757653154 |
ClinGen | rs757653154 |
ebi | rs757653154 |
HLI | rs757653154 |
Exac | rs757653154 |
Gnomad | rs757653154 |
Varsome | rs757653154 |
LitVar | rs757653154 |
Map | rs757653154 |
PheGenI | rs757653154 |
Biobank | rs757653154 |
1000 genomes | rs757653154 |
hgdp | rs757653154 |
ensembl | rs757653154 |
geneview | rs757653154 |
scholar | rs757653154 |
rs757653154 | |
pharmgkb | rs757653154 |
gwascentral | rs757653154 |
openSNP | rs757653154 |
23andMe | rs757653154 |
SNPshot | rs757653154 |
SNPdbe | rs757653154 |
MSV3d | rs757653154 |
GWAS Ctlg | rs757653154 |
Max Magnitude | 1 |
aka c.960_961insG
ClinVar | |
---|---|
Risk | rs757653154(C;C) |
Alt | rs757653154(C;C) |
Reference | Rs757653154(-;-) |
Significance | Pathogenic |
Disease | Fructose-biphosphatase deficiency |
Variation | info |
Gene | FBP1 |
CLNDBN | Fructose-biphosphatase deficiency |
Reversed | 0 |
HGVS | NC_000009.11:g.97365719_97365720insC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000915.3, |