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rs387906546

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 rs387906546(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position241517258
GeneFH
is asnp
is mentioned by
dbSNPrs387906546
dbSNP (classic)rs387906546
ClinGenrs387906546
ebirs387906546
HLIrs387906546
Exacrs387906546
Gnomadrs387906546
Varsomers387906546
LitVarrs387906546
Maprs387906546
PheGenIrs387906546
Biobankrs387906546
1000 genomesrs387906546
hgdprs387906546
ensemblrs387906546
geneviewrs387906546
scholarrs387906546
googlers387906546
pharmgkbrs387906546
gwascentralrs387906546
openSNPrs387906546
23andMers387906546
SNPshotrs387906546
SNPdbers387906546
MSV3drs387906546
GWAS Ctlgrs387906546
Max Magnitude5
ClinVar
Risk rs387906546(C;C)
Alt rs387906546(C;C)
Reference Rs387906546(A;A)
Significance Pathogenic
Disease Hereditary leiomyomatosis and renal cell cancer
Variation info
Gene FH
CLNDBN Hereditary leiomyomatosis and renal cell cancer
Reversed 1
HGVS NC_000001.10:g.241680558T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017620.26,