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rs587777921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
(I;I) 0 common genotype
(TG;TG) 0 common in clinvar
Make rs587777921(-;-)
Make rs587777921(-;TG)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position44595432
GeneSPG11
is asnp
is mentioned by
dbSNPrs587777921
dbSNP (classic)rs587777921
ClinGenrs587777921
ebirs587777921
HLIrs587777921
Exacrs587777921
Gnomadrs587777921
Varsomers587777921
LitVarrs587777921
Maprs587777921
PheGenIrs587777921
Biobankrs587777921
1000 genomesrs587777921
hgdprs587777921
ensemblrs587777921
geneviewrs587777921
scholarrs587777921
googlers587777921
pharmgkbrs587777921
gwascentralrs587777921
openSNPrs587777921
23andMers587777921
SNPshotrs587777921
SNPdbers587777921
MSV3drs587777921
GWAS Ctlgrs587777921
Max Magnitude0
ClinVar
Risk Rs587777921(GT;GT) rs587777921(-;-)
Alt Rs587777921(GT;GT) rs587777921(-;-)
Reference Rs587777921(TG;TG)
Significance Pathogenic
Disease Spastic paraplegia 11
Variation info
Gene SPG11
CLNDBN Spastic paraplegia 11, autosomal recessive
Reversed 1
HGVS NC_000015.9:g.44887630_44887631delCA
CLNSRC
CLNACC RCV000034218.2,