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rs121913120

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Hereditary leiomyomatosis and renal cell cancer
Make rs121913120(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position241513680
GeneFH
is asnp
is mentioned by
dbSNPrs121913120
dbSNP (classic)rs121913120
ClinGenrs121913120
ebirs121913120
HLIrs121913120
Exacrs121913120
Gnomadrs121913120
Varsomers121913120
LitVarrs121913120
Maprs121913120
PheGenIrs121913120
Biobankrs121913120
1000 genomesrs121913120
hgdprs121913120
ensemblrs121913120
geneviewrs121913120
scholarrs121913120
googlers121913120
pharmgkbrs121913120
gwascentralrs121913120
openSNPrs121913120
23andMers121913120
SNPshotrs121913120
SNPdbers121913120
MSV3drs121913120
GWAS Ctlgrs121913120
Max Magnitude5
OMIM136850
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913120(T;T)
Alt rs121913120(T;T)
Reference Rs121913120(C;C)
Significance Pathogenic
Disease Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene FH
CLNDBN Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000001.10:g.241676980G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017619.29, RCV000130873.4, RCV000199330.3,