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rs398123163

From SNPedia

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


Make rs398123163(-;-)
ReferenceGRCh38 38.1/141
Chromosome1
Position241500534
GeneFH
is asnp
is mentioned by
dbSNPrs398123163
dbSNP (classic)rs398123163
ClinGenrs398123163
ebirs398123163
HLIrs398123163
Exacrs398123163
Gnomadrs398123163
Varsomers398123163
LitVarrs398123163
Maprs398123163
PheGenIrs398123163
Biobankrs398123163
1000 genomesrs398123163
hgdprs398123163
ensemblrs398123163
geneviewrs398123163
scholarrs398123163
googlers398123163
pharmgkbrs398123163
gwascentralrs398123163
openSNPrs398123163
23andMers398123163
SNPshotrs398123163
SNPdbers398123163
MSV3drs398123163
GWAS Ctlgrs398123163
Max Magnitude5
ClinVar
Risk rs398123163(-;-)
Alt rs398123163(-;-)
Reference Rs398123163(A;A)
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 1
HGVS NC_000001.10:g.241663834delT
CLNSRC HGMD
CLNACC RCV000078145.6, RCV000445588.1, RCV000461548.1, RCV000493624.1,