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rs878855081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878855081(C;C)
Make rs878855081(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position74719083
GeneFA2H
is asnp
is mentioned by
dbSNPrs878855081
dbSNP (classic)rs878855081
ClinGenrs878855081
ebirs878855081
HLIrs878855081
Exacrs878855081
Gnomadrs878855081
Varsomers878855081
LitVarrs878855081
Maprs878855081
PheGenIrs878855081
Biobankrs878855081
1000 genomesrs878855081
hgdprs878855081
ensemblrs878855081
geneviewrs878855081
scholarrs878855081
googlers878855081
pharmgkbrs878855081
gwascentralrs878855081
openSNPrs878855081
23andMers878855081
SNPshotrs878855081
SNPdbers878855081
MSV3drs878855081
GWAS Ctlgrs878855081
Max Magnitude0
ClinVar
Risk rs878855081(C;C)
Alt rs878855081(C;C)
Reference Rs878855081(T;T)
Significance Probable-Pathogenic
Disease Spastic paraplegia
Variation info
Gene FA2H
CLNDBN Spastic paraplegia
Reversed 1
HGVS NC_000016.9:g.74752981A>G
CLNSRC
CLNACC RCV000229293.2,