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rs794727836

From SNPedia

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


Make rs794727836(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position241504232
GeneFH
is asnp
is mentioned by
dbSNPrs794727836
dbSNP (classic)rs794727836
ClinGenrs794727836
ebirs794727836
HLIrs794727836
Exacrs794727836
Gnomadrs794727836
Varsomers794727836
LitVarrs794727836
Maprs794727836
PheGenIrs794727836
Biobankrs794727836
1000 genomesrs794727836
hgdprs794727836
ensemblrs794727836
geneviewrs794727836
scholarrs794727836
googlers794727836
pharmgkbrs794727836
gwascentralrs794727836
openSNPrs794727836
23andMers794727836
SNPshotrs794727836
SNPdbers794727836
MSV3drs794727836
GWAS Ctlgrs794727836
Max Magnitude5
ClinVar
Risk rs794727836(-;-)
Alt rs794727836(-;-)
Reference Rs794727836(TTTTGTC;TTTTGTC)
Significance Pathogenic
Disease Hereditary leiomyomatosis and renal cell cancer not provided Fumarase deficiency
Variation info
Gene FH
CLNDBN Hereditary leiomyomatosis and renal cell cancer not provided Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241667532_241667538delGACAAAA
CLNSRC
CLNACC RCV000179717.1, RCV000199793.2, RCV000477647.1,