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rs794729214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794729214(-;GCGGGCCAGG)
Make rs794729214(GCGGGCCAGG;GCGGGCCAGG)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position74774596
GeneFA2H
is asnp
is mentioned by
dbSNPrs794729214
ClinGenrs794729214
ebirs794729214
HLIrs794729214
Exacrs794729214
Varsomers794729214
Maprs794729214
PheGenIrs794729214
hapmaprs794729214
1000 genomesrs794729214
hgdprs794729214
ensemblrs794729214
gopubmedrs794729214
geneviewrs794729214
scholarrs794729214
googlers794729214
pharmgkbrs794729214
gwascentralrs794729214
openSNPrs794729214
23andMers794729214
23andMe allrs794729214
SNP Nexus

SNPshotrs794729214
SNPdbers794729214
MSV3drs794729214
GWAS Ctlgrs794729214
Max Magnitude0
ClinVar
Risk rs794729214(GCGGGCCAGG;GCGGGCCAGG)
Alt rs794729214(GCGGGCCAGG;GCGGGCCAGG)
Reference Rs794729214(-;-)
Significance Probable-Pathogenic
Disease Spastic paraplegia 35
Variation info
Gene FA2H
CLNDBN Spastic paraplegia 35
Reversed 1
HGVS NC_000016.9:g.74808495_74808504dupCCTGGCCCGC
CLNSRC
CLNACC RCV000184035.1,