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rs121913124

From SNPedia

Merged intors121913123
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913124(G;T)
Make rs121913124(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position241508643
GeneFH
is asnp
is mentioned by
dbSNPrs121913124
ebirs121913124
HLIrs121913124
Exacrs121913124
Varsomers121913124
Maprs121913124
PheGenIrs121913124
hapmaprs121913124
1000 genomesrs121913124
hgdprs121913124
ensemblrs121913124
gopubmedrs121913124
geneviewrs121913124
scholarrs121913124
googlers121913124
pharmgkbrs121913124
gwascentralrs121913124
openSNPrs121913124
23andMers121913124
23andMe allrs121913124
SNP Nexus

SNPshotrs121913124
SNPdbers121913124
MSV3drs121913124
GWAS Ctlgrs121913124
StatusMerged into rs121913123
Max Magnitude0
OMIM136850
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121913124(T;T)
Alt rs121913124(T;T)
Reference rs121913124(G;G)
Significance Pathogenic
Disease Hereditary leiomyomatosis and renal cell cancer
Variation info
Gene FH
CLNDBN Hereditary leiomyomatosis and renal cell cancer
Reversed 1
HGVS NC_000001.10:g.241671943C>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000037900.1,