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rs121913121

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 Associated with leiomyomatosis and possibly renal cell cancer
Make rs121913121(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position241513661
GeneFH
is asnp
is mentioned by
dbSNPrs121913121
dbSNP (classic)rs121913121
ClinGenrs121913121
ebirs121913121
HLIrs121913121
Exacrs121913121
Gnomadrs121913121
Varsomers121913121
LitVarrs121913121
Maprs121913121
PheGenIrs121913121
Biobankrs121913121
1000 genomesrs121913121
hgdprs121913121
ensemblrs121913121
geneviewrs121913121
scholarrs121913121
googlers121913121
pharmgkbrs121913121
gwascentralrs121913121
openSNPrs121913121
23andMers121913121
SNPshotrs121913121
SNPdbers121913121
MSV3drs121913121
GWAS Ctlgrs121913121
Max Magnitude5
OMIM136850
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121913121(C;C)
Alt rs121913121(C;C)
Reference Rs121913121(A;A)
Significance Pathogenic
Disease Hereditary leiomyomatosis and renal cell cancer not provided Hereditary cancer-predisposing syndrome
Variation info
Gene FH
CLNDBN Hereditary leiomyomatosis and renal cell cancer not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000001.10:g.241676961T>G
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017620.30, RCV000078148.6, RCV000493777.1,