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rs875989845

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs875989845(-;-)
Make rs875989845(-;C)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position65183543
GeneCAPN1, LOC728975
is asnp
is mentioned by
dbSNPrs875989845
dbSNP (classic)rs875989845
ClinGenrs875989845
ebirs875989845
HLIrs875989845
Exacrs875989845
Gnomadrs875989845
Varsomers875989845
LitVarrs875989845
Maprs875989845
PheGenIrs875989845
Biobankrs875989845
1000 genomesrs875989845
hgdprs875989845
ensemblrs875989845
geneviewrs875989845
scholarrs875989845
googlers875989845
pharmgkbrs875989845
gwascentralrs875989845
openSNPrs875989845
23andMers875989845
SNPshotrs875989845
SNPdbers875989845
MSV3drs875989845
GWAS Ctlgrs875989845
Max Magnitude0
ClinVar
Risk rs875989845(-;-)
Alt rs875989845(-;-)
Reference Rs875989845(C;C)
Significance Pathogenic
Disease Spastic paraplegia 76
Variation info
Gene CAPN1
CLNDBN Spastic paraplegia 76, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.64951014delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000211053.2,