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rs1060500883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060500883(A;A)
Make rs1060500883(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position241517245
GeneFH
is asnp
is mentioned by
dbSNPrs1060500883
dbSNP (old)rs1060500883
ClinGenrs1060500883
ebirs1060500883
HLIrs1060500883
Exacrs1060500883
Gnomadrs1060500883
Varsomers1060500883
LitVarrs1060500883
Maprs1060500883
PheGenIrs1060500883
Biobankrs1060500883
1000 genomesrs1060500883
hgdprs1060500883
ensemblrs1060500883
gopubmedrs1060500883
geneviewrs1060500883
scholarrs1060500883
googlers1060500883
pharmgkbrs1060500883
gwascentralrs1060500883
openSNPrs1060500883
23andMers1060500883
23andMe allrs1060500883
SNPshotrs1060500883
SNPdbers1060500883
MSV3drs1060500883
GWAS Ctlgrs1060500883
Max Magnitude0
ClinVar
Risk rs1060500883(A;A)
Alt rs1060500883(A;A)
Reference Rs1060500883(T;T)
Significance Pathogenic
Disease Fumarase deficiency Hereditary cancer-predisposing syndrome
Variation info
Gene FH
CLNDBN Fumarase deficiency Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000001.10:g.241680545A>T
CLNSRC
CLNACC RCV000468176.1, RCV000493845.1,