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rs863223980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863223980(C;T)
Make rs863223980(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position241517310
GeneFH
is asnp
is mentioned by
dbSNPrs863223980
dbSNP (classic)rs863223980
ClinGenrs863223980
ebirs863223980
HLIrs863223980
Exacrs863223980
Gnomadrs863223980
Varsomers863223980
LitVarrs863223980
Maprs863223980
PheGenIrs863223980
Biobankrs863223980
1000 genomesrs863223980
hgdprs863223980
ensemblrs863223980
geneviewrs863223980
scholarrs863223980
googlers863223980
pharmgkbrs863223980
gwascentralrs863223980
openSNPrs863223980
23andMers863223980
SNPshotrs863223980
SNPdbers863223980
MSV3drs863223980
GWAS Ctlgrs863223980
Max Magnitude0
ClinVar
Risk rs863223980(T;T)
Alt rs863223980(T;T)
Reference Rs863223980(C;C)
Significance 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 1
HGVS NC_000001.10:g.241680610G>A
CLNSRC
CLNACC RCV000200269.2, RCV000445602.1, RCV000494159.1,