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rs121918189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918189(A;A)
Make rs121918189(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position94609958
GeneFBP1
is asnp
is mentioned by
dbSNPrs121918189
dbSNP (classic)rs121918189
ClinGenrs121918189
ebirs121918189
HLIrs121918189
Exacrs121918189
Gnomadrs121918189
Varsomers121918189
LitVarrs121918189
Maprs121918189
PheGenIrs121918189
Biobankrs121918189
1000 genomesrs121918189
hgdprs121918189
ensemblrs121918189
geneviewrs121918189
scholarrs121918189
googlers121918189
pharmgkbrs121918189
gwascentralrs121918189
openSNPrs121918189
23andMers121918189
SNPshotrs121918189
SNPdbers121918189
MSV3drs121918189
GWAS Ctlgrs121918189
Max Magnitude0
OMIM611570
Desc
Variant0003
Relatedalso
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,