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rs121913122

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Hereditary leiomyomatosis and renal cell cancer
Make rs121913122(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position241504123
GeneFH
is asnp
is mentioned by
dbSNPrs121913122
dbSNP (classic)rs121913122
ClinGenrs121913122
ebirs121913122
HLIrs121913122
Exacrs121913122
Gnomadrs121913122
Varsomers121913122
LitVarrs121913122
Maprs121913122
PheGenIrs121913122
Biobankrs121913122
1000 genomesrs121913122
hgdprs121913122
ensemblrs121913122
geneviewrs121913122
scholarrs121913122
googlers121913122
pharmgkbrs121913122
gwascentralrs121913122
openSNPrs121913122
23andMers121913122
SNPshotrs121913122
SNPdbers121913122
MSV3drs121913122
GWAS Ctlgrs121913122
Max Magnitude5
OMIM136850
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121913122(T;T)
Alt rs121913122(T;T)
Reference Rs121913122(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.241667423G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017622.24, RCV000130875.3, RCV000197989.2,