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rs398123159

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123159(A;A)
Make rs398123159(A;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position241504130
GeneFH
is asnp
is mentioned by
dbSNPrs398123159
dbSNP (classic)rs398123159
ClinGenrs398123159
ebirs398123159
HLIrs398123159
Exacrs398123159
Gnomadrs398123159
Varsomers398123159
LitVarrs398123159
Maprs398123159
PheGenIrs398123159
Biobankrs398123159
1000 genomesrs398123159
hgdprs398123159
ensemblrs398123159
geneviewrs398123159
scholarrs398123159
googlers398123159
pharmgkbrs398123159
gwascentralrs398123159
openSNPrs398123159
23andMers398123159
SNPshotrs398123159
SNPdbers398123159
MSV3drs398123159
GWAS Ctlgrs398123159
Max Magnitude0
ClinVar
Risk rs398123159(A;A)
Alt rs398123159(A;A)
Reference Rs398123159(T;T)
Significance Pathogenic
Disease not provided Hereditary cancer-predisposing syndrome Fumarase deficiency not specified Hereditary leiomyomatosis and renal cell cancer
Variation info
Gene FH
CLNDBN not provided Hereditary cancer-predisposing syndrome Fumarase deficiency not specified Hereditary leiomyomatosis and renal cell cancer
Reversed 1
HGVS NC_000001.10:g.241667430A>T
CLNSRC HGMD
CLNACC RCV000078140.7, RCV000220396.2, RCV000228017.2, RCV000259049.1, RCV000445596.1,