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rs199822819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199822819(C;C)
Make rs199822819(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position241512001
GeneFH
is asnp
is mentioned by
dbSNPrs199822819
dbSNP (classic)rs199822819
ClinGenrs199822819
ebirs199822819
HLIrs199822819
Exacrs199822819
Gnomadrs199822819
Varsomers199822819
LitVarrs199822819
Maprs199822819
PheGenIrs199822819
Biobankrs199822819
1000 genomesrs199822819
hgdprs199822819
ensemblrs199822819
geneviewrs199822819
scholarrs199822819
googlers199822819
pharmgkbrs199822819
gwascentralrs199822819
openSNPrs199822819
23andMers199822819
SNPshotrs199822819
SNPdbers199822819
MSV3drs199822819
GWAS Ctlgrs199822819
Max Magnitude0
ClinVar
Risk rs199822819(C;C)
Alt rs199822819(C;C)
Reference Rs199822819(G;G)
Significance Other
Disease Fumarase deficiency not provided Multiple Cutaneous and Uterine Leiomyomas Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome
Variation info
Gene FH
CLNDBN Fumarase deficiency not provided Multiple Cutaneous and Uterine Leiomyomas Hereditary leiomyomatosis and renal cell cancer Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000001.10:g.241675301G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000022554.34, RCV000078149.5, RCV000304166.1, RCV000353057.1, RCV000492836.1,