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rs1060500907

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AGCAG;AGCAG) 0 common in clinvar
Make rs1060500907(-;-)
Make rs1060500907(-;AGCAG)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position241497873
GeneFH
is asnp
is mentioned by
dbSNPrs1060500907
dbSNP (old)rs1060500907
ClinGenrs1060500907
ebirs1060500907
HLIrs1060500907
Exacrs1060500907
Gnomadrs1060500907
Varsomers1060500907
Maprs1060500907
PheGenIrs1060500907
Biobankrs1060500907
1000 genomesrs1060500907
hgdprs1060500907
ensemblrs1060500907
gopubmedrs1060500907
geneviewrs1060500907
scholarrs1060500907
googlers1060500907
pharmgkbrs1060500907
gwascentralrs1060500907
openSNPrs1060500907
23andMers1060500907
23andMe allrs1060500907
SNPshotrs1060500907
SNPdbers1060500907
MSV3drs1060500907
GWAS Ctlgrs1060500907
Max Magnitude0
ClinVar
Risk rs1060500907(-;-)
Alt rs1060500907(-;-)
Reference Rs1060500907(AGCAG;AGCAG)
Significance Probable-Pathogenic
Disease Fumarase deficiency
Variation info
Gene FH
CLNDBN Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241661173_241661177delCTGCT
CLNSRC
CLNACC RCV000472606.1,