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rs863223992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863223992(-;TCAC)
Make rs863223992(TCAC;TCAC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position241500456
GeneFH
is asnp
is mentioned by
dbSNPrs863223992
dbSNP (old)rs863223992
ClinGenrs863223992
ebirs863223992
HLIrs863223992
Exacrs863223992
Gnomadrs863223992
Varsomers863223992
Maprs863223992
PheGenIrs863223992
Biobankrs863223992
1000 genomesrs863223992
hgdprs863223992
ensemblrs863223992
gopubmedrs863223992
geneviewrs863223992
scholarrs863223992
googlers863223992
pharmgkbrs863223992
gwascentralrs863223992
openSNPrs863223992
23andMers863223992
23andMe allrs863223992
SNP Nexus

SNPshotrs863223992
SNPdbers863223992
MSV3drs863223992
GWAS Ctlgrs863223992
Max Magnitude0
ClinVar
Risk rs863223992(TCAC;TCAC)
Alt rs863223992(TCAC;TCAC)
Reference Rs863223992(-;-)
Significance Pathogenic
Disease not provided Fumarase deficiency Hereditary cancer-predisposing syndrome
Variation info
Gene FH
CLNDBN not provided Fumarase deficiency Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000001.10:g.241663756_241663757insGTGA
CLNSRC
CLNACC RCV000198336.1, RCV000471694.1, RCV000494183.1,