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rs878855083

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs878855083(-;-)
Make rs878855083(-;CT)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position74716564
GeneFA2H
is asnp
is mentioned by
dbSNPrs878855083
dbSNP (classic)rs878855083
ClinGenrs878855083
ebirs878855083
HLIrs878855083
Exacrs878855083
Gnomadrs878855083
Varsomers878855083
LitVarrs878855083
Maprs878855083
PheGenIrs878855083
Biobankrs878855083
1000 genomesrs878855083
hgdprs878855083
ensemblrs878855083
geneviewrs878855083
scholarrs878855083
googlers878855083
pharmgkbrs878855083
gwascentralrs878855083
openSNPrs878855083
23andMers878855083
SNPshotrs878855083
SNPdbers878855083
MSV3drs878855083
GWAS Ctlgrs878855083
Max Magnitude0
ClinVar
Risk rs878855083(-;-)
Alt rs878855083(-;-)
Reference Rs878855083(CT;CT)
Significance Pathogenic
Disease Spastic paraplegia
Variation info
Gene FA2H
CLNDBN Spastic paraplegia
Reversed 1
HGVS NC_000016.9:g.74750462_74750463delAG
CLNSRC
CLNACC RCV000225829.1,