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rs1060500904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060500904(-;-)
Make rs1060500904(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position241502567
GeneFH
is asnp
is mentioned by
dbSNPrs1060500904
dbSNP (old)rs1060500904
ClinGenrs1060500904
ebirs1060500904
HLIrs1060500904
Exacrs1060500904
Gnomadrs1060500904
Varsomers1060500904
Maprs1060500904
PheGenIrs1060500904
Biobankrs1060500904
1000 genomesrs1060500904
hgdprs1060500904
ensemblrs1060500904
gopubmedrs1060500904
geneviewrs1060500904
scholarrs1060500904
googlers1060500904
pharmgkbrs1060500904
gwascentralrs1060500904
openSNPrs1060500904
23andMers1060500904
23andMe allrs1060500904
SNPshotrs1060500904
SNPdbers1060500904
MSV3drs1060500904
GWAS Ctlgrs1060500904
Max Magnitude0
ClinVar
Risk rs1060500904(-;-)
Alt rs1060500904(-;-)
Reference Rs1060500904(A;A)
Significance Pathogenic
Disease Fumarase deficiency
Variation info
Gene FH
CLNDBN Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241665867delT
CLNSRC
CLNACC RCV000477222.1,