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rs11545658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs11545658(C;T)
Make rs11545658(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position241508662
GeneFH
is asnp
is mentioned by
dbSNPrs11545658
dbSNP (old)rs11545658
ClinGenrs11545658
ebirs11545658
HLIrs11545658
Exacrs11545658
Gnomadrs11545658
Varsomers11545658
Maprs11545658
PheGenIrs11545658
Biobankrs11545658
1000 genomesrs11545658
hgdprs11545658
ensemblrs11545658
gopubmedrs11545658
geneviewrs11545658
scholarrs11545658
googlers11545658
pharmgkbrs11545658
gwascentralrs11545658
openSNPrs11545658
23andMers11545658
23andMe allrs11545658
SNPshotrs11545658
SNPdbers11545658
MSV3drs11545658
GWAS Ctlgrs11545658
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs11545658(T;T)
Alt rs11545658(T;T)
Reference Rs11545658(C;C)
Significance Pathogenic
Disease Fumarase deficiency
Variation info
Gene FH
CLNDBN Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241671962G>A
CLNSRC
CLNACC RCV000468298.1,