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rs863223994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863223994(-;AAAATGGA)
Make rs863223994(AAAATGGA;AAAATGGA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position241497923
GeneFH
is asnp
is mentioned by
dbSNPrs863223994
dbSNP (old)rs863223994
ClinGenrs863223994
ebirs863223994
HLIrs863223994
Exacrs863223994
Gnomadrs863223994
Varsomers863223994
Maprs863223994
PheGenIrs863223994
Biobankrs863223994
1000 genomesrs863223994
hgdprs863223994
ensemblrs863223994
gopubmedrs863223994
geneviewrs863223994
scholarrs863223994
googlers863223994
pharmgkbrs863223994
gwascentralrs863223994
openSNPrs863223994
23andMers863223994
23andMe allrs863223994
SNP Nexus

SNPshotrs863223994
SNPdbers863223994
MSV3drs863223994
GWAS Ctlgrs863223994
Max Magnitude0
ClinVar
Risk rs863223994(AAAATGGA;AAAATGGA)
Alt rs863223994(AAAATGGA;AAAATGGA)
Reference Rs863223994(-;-)
Significance Pathogenic
Disease not provided Fumarase deficiency
Variation info
Gene FH
CLNDBN not provided Fumarase deficiency
Reversed 1
HGVS NC_000001.10:g.241661224_241661231dupTCCATTTT
CLNSRC
CLNACC RCV000199224.1, RCV000473392.1,