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rs863224007

From SNPedia

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


Make rs863224007(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position241502490
GeneFH
is asnp
is mentioned by
dbSNPrs863224007
dbSNP (classic)rs863224007
ClinGenrs863224007
ebirs863224007
HLIrs863224007
Exacrs863224007
Gnomadrs863224007
Varsomers863224007
LitVarrs863224007
Maprs863224007
PheGenIrs863224007
Biobankrs863224007
1000 genomesrs863224007
hgdprs863224007
ensemblrs863224007
geneviewrs863224007
scholarrs863224007
googlers863224007
pharmgkbrs863224007
gwascentralrs863224007
openSNPrs863224007
23andMers863224007
SNPshotrs863224007
SNPdbers863224007
MSV3drs863224007
GWAS Ctlgrs863224007
Max Magnitude5
ClinVar
Risk rs863224007(A;A)
Alt rs863224007(A;A)
Reference Rs863224007(G;G)
Significance Pathogenic
Disease not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency
Variation info
Gene FH
CLNDBN not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241665790C>T
CLNSRC
CLNACC RCV000200752.3, RCV000445595.1, RCV000465210.1,