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rs1060500903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060500903(-;-)
Make rs1060500903(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position241500480
GeneFH
is asnp
is mentioned by
dbSNPrs1060500903
dbSNP (old)rs1060500903
ClinGenrs1060500903
ebirs1060500903
HLIrs1060500903
Exacrs1060500903
Gnomadrs1060500903
Varsomers1060500903
Maprs1060500903
PheGenIrs1060500903
Biobankrs1060500903
1000 genomesrs1060500903
hgdprs1060500903
ensemblrs1060500903
gopubmedrs1060500903
geneviewrs1060500903
scholarrs1060500903
googlers1060500903
pharmgkbrs1060500903
gwascentralrs1060500903
openSNPrs1060500903
23andMers1060500903
23andMe allrs1060500903
SNPshotrs1060500903
SNPdbers1060500903
MSV3drs1060500903
GWAS Ctlgrs1060500903
Max Magnitude0
ClinVar
Risk rs1060500903(-;-)
Alt rs1060500903(-;-)
Reference Rs1060500903(G;G)
Significance Pathogenic
Disease Fumarase deficiency
Variation info
Gene FH
CLNDBN Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241663780delC
CLNSRC
CLNACC RCV000465683.1,