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rs587781682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Hereditary leiomyomatosis and renal cell cancer
Make rs587781682(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position241508644
GeneFH
is asnp
is mentioned by
dbSNPrs587781682
dbSNP (classic)rs587781682
ClinGenrs587781682
ebirs587781682
HLIrs587781682
Exacrs587781682
Gnomadrs587781682
Varsomers587781682
LitVarrs587781682
Maprs587781682
PheGenIrs587781682
Biobankrs587781682
1000 genomesrs587781682
hgdprs587781682
ensemblrs587781682
geneviewrs587781682
scholarrs587781682
googlers587781682
pharmgkbrs587781682
gwascentralrs587781682
openSNPrs587781682
23andMers587781682
SNPshotrs587781682
SNPdbers587781682
MSV3drs587781682
GWAS Ctlgrs587781682
Max Magnitude5
ClinVar
Risk rs587781682(T;T)
Alt rs587781682(T;T)
Reference Rs587781682(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Hereditary leiomyomatosis and renal cell cancer
Variation info
Gene FH
CLNDBN Hereditary cancer-predisposing syndrome not provided Hereditary leiomyomatosis and renal cell cancer
Reversed 1
HGVS NC_000001.10:g.241671944G>A
CLNSRC HGMD
CLNACC RCV000129845.4, RCV000153237.4, RCV000178716.1,