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rs121913119

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913119(C;C)
Make rs121913119(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position241504066
GeneFH
is asnp
is mentioned by
dbSNPrs121913119
ebirs121913119
HLIrs121913119
Exacrs121913119
Varsomers121913119
Maprs121913119
PheGenIrs121913119
hapmaprs121913119
1000 genomesrs121913119
hgdprs121913119
ensemblrs121913119
gopubmedrs121913119
geneviewrs121913119
scholarrs121913119
googlers121913119
pharmgkbrs121913119
gwascentralrs121913119
openSNPrs121913119
23andMers121913119
23andMe allrs121913119
SNP Nexus

SNPshotrs121913119
SNPdbers121913119
MSV3drs121913119
GWAS Ctlgrs121913119
Max Magnitude0
OMIM136850
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913119(C;C)
Alt rs121913119(C;C)
Reference rs121913119(G;G)
Significance Pathogenic
Disease Fumarase deficiency
Variation info
Gene FH
CLNDBN Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241667366C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017618.28,