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rs863224924

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224924(CCAAGTCTGTA;CCAAGTCTGTA)
Make rs863224924(CCAAGTCTGTA;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position89554502
GeneSPG7
is asnp
is mentioned by
dbSNPrs863224924
dbSNP (old)rs863224924
ClinGenrs863224924
ebirs863224924
HLIrs863224924
Exacrs863224924
Gnomadrs863224924
Varsomers863224924
Maprs863224924
PheGenIrs863224924
Biobankrs863224924
1000 genomesrs863224924
hgdprs863224924
ensemblrs863224924
gopubmedrs863224924
geneviewrs863224924
scholarrs863224924
googlers863224924
pharmgkbrs863224924
gwascentralrs863224924
openSNPrs863224924
23andMers863224924
23andMe allrs863224924
SNP Nexus

SNPshotrs863224924
SNPdbers863224924
MSV3drs863224924
GWAS Ctlgrs863224924
Max Magnitude0
ClinVar
Risk rs863224924(CCAAGTCTGTA;CCAAGTCTGTA)
Alt rs863224924(CCAAGTCTGTA;CCAAGTCTGTA)
Reference Rs863224924(T;T)
Significance Probable-Pathogenic
Disease Spastic paraplegia 7
Variation info
Gene RPL13 SPG7
CLNDBN Spastic paraplegia 7
Reversed 0
HGVS NC_000016.9:g.89620910delTinsCCAAGTCTGTA
CLNSRC
CLNACC RCV000198007.1,