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rs202166344

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202166344(A;A)
Make rs202166344(A;C)
Make rs202166344(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position241519716
GeneFH
is asnp
is mentioned by
dbSNPrs202166344
ebirs202166344
HLIrs202166344
Exacrs202166344
Varsomers202166344
Maprs202166344
PheGenIrs202166344
hapmaprs202166344
1000 genomesrs202166344
hgdprs202166344
ensemblrs202166344
gopubmedrs202166344
geneviewrs202166344
scholarrs202166344
googlers202166344
pharmgkbrs202166344
gwascentralrs202166344
openSNPrs202166344
23andMers202166344
23andMe allrs202166344
SNP Nexus

SNPshotrs202166344
SNPdbers202166344
MSV3drs202166344
GWAS Ctlgrs202166344
Max Magnitude0
ClinVar
Risk rs202166344(A,C;A,C)
Alt rs202166344(A,C;A,C)
Reference rs202166344(G;G)
Significance Pathogenic
Disease not provided not specified Fumarase deficiency
Variation info
Gene FH
CLNDBN not provided not specified Fumarase deficiency
Reversed 0
HGVS NC_000001.10:g.241683016G>A; NC_000001.10:g.241683016G>C
CLNSRC
CLNACC RCV000196918.2, RCV000195609.2, RCV000204400.2,