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rs1060500901

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500901(C;C)
Make rs1060500901(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position241508601
GeneFH
is asnp
is mentioned by
dbSNPrs1060500901
dbSNP (old)rs1060500901
ClinGenrs1060500901
ebirs1060500901
HLIrs1060500901
Exacrs1060500901
Gnomadrs1060500901
Varsomers1060500901
Maprs1060500901
PheGenIrs1060500901
Biobankrs1060500901
1000 genomesrs1060500901
hgdprs1060500901
ensemblrs1060500901
gopubmedrs1060500901
geneviewrs1060500901
scholarrs1060500901
googlers1060500901
pharmgkbrs1060500901
gwascentralrs1060500901
openSNPrs1060500901
23andMers1060500901
23andMe allrs1060500901
SNPshotrs1060500901
SNPdbers1060500901
MSV3drs1060500901
GWAS Ctlgrs1060500901
Max Magnitude0
ClinVar
Risk rs1060500901(C;C)
Alt rs1060500901(C;C)
Reference Rs1060500901(T;T)
Significance Probable-Pathogenic
Disease Fumarase deficiency
Variation info
Gene FH
CLNDBN Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241671901A>G
CLNSRC
CLNACC RCV000458630.1,