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rs756469140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TTCA) 5 Hereditary leiomyomatosis and renal cell cancer
(TTCA;TTCA) 0 common in clinvar


Make rs756469140(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position241504064
GeneFH
is asnp
is mentioned by
dbSNPrs756469140
dbSNP (classic)rs756469140
ClinGenrs756469140
ebirs756469140
HLIrs756469140
Exacrs756469140
Gnomadrs756469140
Varsomers756469140
LitVarrs756469140
Maprs756469140
PheGenIrs756469140
Biobankrs756469140
1000 genomesrs756469140
hgdprs756469140
ensemblrs756469140
geneviewrs756469140
scholarrs756469140
googlers756469140
pharmgkbrs756469140
gwascentralrs756469140
openSNPrs756469140
23andMers756469140
SNPshotrs756469140
SNPdbers756469140
MSV3drs756469140
GWAS Ctlgrs756469140
Max Magnitude5
ClinVar
Risk rs756469140(-;-)
Alt rs756469140(-;-)
Reference Rs756469140(TTCA;TTCA)
Significance Pathogenic
Disease not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary cancer-predisposing syndrome
Variation info
Gene FH
CLNDBN not provided Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000001.10:g.241667364_241667367delTTCA
CLNSRC
CLNACC RCV000196197.2, RCV000445586.1, RCV000470614.1, RCV000493004.1,