rs121918189
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918189(A;A) |
Make rs121918189(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 94609958 |
Gene | FBP1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918189 |
dbSNP (classic) | rs121918189 |
ClinGen | rs121918189 |
ebi | rs121918189 |
HLI | rs121918189 |
Exac | rs121918189 |
Gnomad | rs121918189 |
Varsome | rs121918189 |
LitVar | rs121918189 |
Map | rs121918189 |
PheGenI | rs121918189 |
Biobank | rs121918189 |
1000 genomes | rs121918189 |
hgdp | rs121918189 |
ensembl | rs121918189 |
geneview | rs121918189 |
scholar | rs121918189 |
rs121918189 | |
pharmgkb | rs121918189 |
gwascentral | rs121918189 |
openSNP | rs121918189 |
23andMe | rs121918189 |
SNPshot | rs121918189 |
SNPdbe | rs121918189 |
MSV3d | rs121918189 |
GWAS Ctlg | rs121918189 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918189(A;A) rs121918189(T;T) |
Alt | rs121918189(A;A) rs121918189(T;T) |
Reference | Rs121918189(C;C) |
Significance | Pathogenic |
Disease | Fructose-biphosphatase deficiency |
Variation | info |
Gene | FBP1 |
CLNDBN | Fructose-biphosphatase deficiency |
Reversed | 1 |
HGVS | NC_000009.11:g.97372240G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000917.3, |