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rs121913123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5 Associated with leiomyomatosis and possibly renal cell cancer
(G;G) 0 common in clinvar
(G;T) 5 Associated with leiomyomatosis and possibly renal cell cancer


Make rs121913123(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position241508643
GeneFH
is asnp
is mentioned by
dbSNPrs121913123
dbSNP (old)rs121913123
ClinGenrs121913123
ebirs121913123
HLIrs121913123
Exacrs121913123
Varsomers121913123
Maprs121913123
PheGenIrs121913123
Biobankrs121913123
1000 genomesrs121913123
hgdprs121913123
ensemblrs121913123
gopubmedrs121913123
geneviewrs121913123
scholarrs121913123
googlers121913123
pharmgkbrs121913123
gwascentralrs121913123
openSNPrs121913123
23andMers121913123
23andMe allrs121913123
SNP Nexus

SNPshotrs121913123
SNPdbers121913123
MSV3drs121913123
GWAS Ctlgrs121913123
Merged fromRs121913124, Rs28933069
Max Magnitude5
OMIM136850
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913123(A;A) rs121913123(T;T)
Alt rs121913123(A;A) rs121913123(T;T)
Reference Rs121913123(G;G)
Significance Other
Disease Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency not provided Hereditary cancer-predisposing syndrome
Variation info
Gene FH
CLNDBN Hereditary leiomyomatosis and renal cell cancer Fumarase deficiency not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000001.10:g.241671943C>A; NC_000001.10:g.241671943C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017624.29, RCV000017623.24, RCV000178717.4, RCV000196988.3, RCV000493379.1,