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rs1769259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(T;T) 0
Make rs1769259(A;G)
Make rs1769259(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position94606867
GeneFBP1
is asnp
is mentioned by
dbSNPrs1769259
ebirs1769259
HLIrs1769259
Exacrs1769259
Varsomers1769259
Maprs1769259
PheGenIrs1769259
hapmaprs1769259
1000 genomesrs1769259
hgdprs1769259
ensemblrs1769259
gopubmedrs1769259
geneviewrs1769259
scholarrs1769259
googlers1769259
pharmgkbrs1769259
gwascentralrs1769259
openSNPrs1769259
23andMers1769259
23andMe allrs1769259
SNP Nexus

SNPshotrs1769259
SNPdbers1769259
MSV3drs1769259
GWAS Ctlgrs1769259
GMAF0.0225
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene FBP1
allele T
frequency 0.95
sift TOLERATED
HuRef 1103652132489
Disease Association Defects in FBP1 are the cause of fructose-1,6- bisphosphatase deficiency (FBPD) (MIM:229700). FBPD is inherited as an autosomal recessive disorder mainly in the liver and causes life-threatening episodes of hypoglycemia and metabolic acidosis (lactacidemia) in newborn infants or young children.



GET Evidence
FBP1-R218K
aa_change Arg218Lys
aa_change_short R218K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.954174
summary