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rs878853691

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 5 Hereditary leiomyomatosis and renal cell cancer
(G;G) 0 common in clinvar


Make rs878853691(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position241517181
GeneFH
is asnp
is mentioned by
dbSNPrs878853691
dbSNP (classic)rs878853691
ClinGenrs878853691
ebirs878853691
HLIrs878853691
Exacrs878853691
Gnomadrs878853691
Varsomers878853691
LitVarrs878853691
Maprs878853691
PheGenIrs878853691
Biobankrs878853691
1000 genomesrs878853691
hgdprs878853691
ensemblrs878853691
geneviewrs878853691
scholarrs878853691
googlers878853691
pharmgkbrs878853691
gwascentralrs878853691
openSNPrs878853691
23andMers878853691
SNPshotrs878853691
SNPdbers878853691
MSV3drs878853691
GWAS Ctlgrs878853691
Max Magnitude5
ClinVar
Risk rs878853691(A;A) rs878853691(C;C)
Alt rs878853691(A;A) rs878853691(C;C)
Reference Rs878853691(G;G)
Significance Pathogenic
Disease Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer
Variation info
Gene FH
CLNDBN Fumarase deficiency Hereditary leiomyomatosis and renal cell cancer
Reversed 1
HGVS NC_000001.10:g.241680481C>G; NC_000001.10:g.241680481C>T
CLNSRC
CLNACC RCV000231447.2, RCV000445634.1, RCV000467593.1,