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rs121918188

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918188(A;A)
Make rs121918188(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position94609998
GeneFBP1
is asnp
is mentioned by
dbSNPrs121918188
dbSNP (classic)rs121918188
ClinGenrs121918188
ebirs121918188
HLIrs121918188
Exacrs121918188
Gnomadrs121918188
Varsomers121918188
LitVarrs121918188
Maprs121918188
PheGenIrs121918188
Biobankrs121918188
1000 genomesrs121918188
hgdprs121918188
ensemblrs121918188
geneviewrs121918188
scholarrs121918188
googlers121918188
pharmgkbrs121918188
gwascentralrs121918188
openSNPrs121918188
23andMers121918188
SNPshotrs121918188
SNPdbers121918188
MSV3drs121918188
GWAS Ctlgrs121918188
Max Magnitude0
OMIM611570
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918188(A;A)
Alt rs121918188(A;A)
Reference Rs121918188(G;G)
Significance Pathogenic
Disease Fructose-biphosphatase deficiency
Variation info
Gene FBP1
CLNDBN Fructose-biphosphatase deficiency
Reversed 1
HGVS NC_000009.11:g.97372280C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000916.3,