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rs779707997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs779707997(C;C)
Make rs779707997(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position241511968
GeneFH
is asnp
is mentioned by
dbSNPrs779707997
dbSNP (classic)rs779707997
ClinGenrs779707997
ebirs779707997
HLIrs779707997
Exacrs779707997
Gnomadrs779707997
Varsomers779707997
LitVarrs779707997
Maprs779707997
PheGenIrs779707997
Biobankrs779707997
1000 genomesrs779707997
hgdprs779707997
ensemblrs779707997
geneviewrs779707997
scholarrs779707997
googlers779707997
pharmgkbrs779707997
gwascentralrs779707997
openSNPrs779707997
23andMers779707997
SNPshotrs779707997
SNPdbers779707997
MSV3drs779707997
GWAS Ctlgrs779707997
Max Magnitude0
ClinVar
Risk rs779707997(C;C)
Alt rs779707997(C;C)
Reference Rs779707997(T;T)
Significance Probable-Pathogenic
Disease not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome
Variation info
Gene FH
CLNDBN not provided Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000001.10:g.241675268T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000196456.2, RCV000445603.1, RCV000494490.1,