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rs121913118

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913118(A;A)
Make rs121913118(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position241504228
GeneFH
is asnp
is mentioned by
dbSNPrs121913118
ebirs121913118
HLIrs121913118
Exacrs121913118
Varsomers121913118
Maprs121913118
PheGenIrs121913118
hapmaprs121913118
1000 genomesrs121913118
hgdprs121913118
ensemblrs121913118
gopubmedrs121913118
geneviewrs121913118
scholarrs121913118
googlers121913118
pharmgkbrs121913118
gwascentralrs121913118
openSNPrs121913118
23andMers121913118
23andMe allrs121913118
SNP Nexus

SNPshotrs121913118
SNPdbers121913118
MSV3drs121913118
GWAS Ctlgrs121913118
Max Magnitude0
OMIM136850
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913118(A;A)
Alt rs121913118(A;A)
Reference rs121913118(G;G)
Significance Pathogenic
Disease Fumarase deficiency
Variation info
Gene FH
CLNDBN Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241667528C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017617.22,