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rs863223968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5 Hereditary leiomyomatosis and renal cell cancer
Make rs863223968(C;T)
Make rs863223968(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position241508638
GeneFH
is asnp
is mentioned by
dbSNPrs863223968
dbSNP (classic)rs863223968
ClinGenrs863223968
ebirs863223968
HLIrs863223968
Exacrs863223968
Gnomadrs863223968
Varsomers863223968
LitVarrs863223968
Maprs863223968
PheGenIrs863223968
Biobankrs863223968
1000 genomesrs863223968
hgdprs863223968
ensemblrs863223968
geneviewrs863223968
scholarrs863223968
googlers863223968
pharmgkbrs863223968
gwascentralrs863223968
openSNPrs863223968
23andMers863223968
SNPshotrs863223968
SNPdbers863223968
MSV3drs863223968
GWAS Ctlgrs863223968
Max Magnitude5
ClinVar
Risk rs863223968(G;G) rs863223968(T;T)
Alt rs863223968(G;G) rs863223968(T;T)
Reference Rs863223968(C;C)
Significance Probable-Pathogenic
Disease not provided Hereditary leiomyomatosis and renal cell cancer
Variation info
Gene FH
CLNDBN not provided Hereditary leiomyomatosis and renal cell cancer
Reversed 1
HGVS NC_000001.10:g.241671938G>A; NC_000001.10:g.241671938G>C
CLNSRC
CLNACC RCV000199454.2, RCV000445621.1,