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rs387906545

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906545(A;A)
Make rs387906545(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position241506114
GeneFH
is asnp
is mentioned by
dbSNPrs387906545
ebirs387906545
HLIrs387906545
Exacrs387906545
Varsomers387906545
Maprs387906545
PheGenIrs387906545
hapmaprs387906545
1000 genomesrs387906545
hgdprs387906545
ensemblrs387906545
gopubmedrs387906545
geneviewrs387906545
scholarrs387906545
googlers387906545
pharmgkbrs387906545
gwascentralrs387906545
openSNPrs387906545
23andMers387906545
23andMe allrs387906545
SNP Nexus

SNPshotrs387906545
SNPdbers387906545
MSV3drs387906545
GWAS Ctlgrs387906545
Max Magnitude0
ClinVar
Risk rs387906545(A;A)
Alt rs387906545(A;A)
Reference rs387906545(G;G)
Significance Pathogenic
Disease Fumarase deficiency
Variation info
Gene FH
CLNDBN Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241669414C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017617.23,