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rs875989787

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs875989787(C;T)
Make rs875989787(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position65206793
GeneCAPN1
is asnp
is mentioned by
dbSNPrs875989787
ebirs875989787
HLIrs875989787
Exacrs875989787
Varsomers875989787
Maprs875989787
PheGenIrs875989787
hapmaprs875989787
1000 genomesrs875989787
hgdprs875989787
ensemblrs875989787
gopubmedrs875989787
geneviewrs875989787
scholarrs875989787
googlers875989787
pharmgkbrs875989787
gwascentralrs875989787
openSNPrs875989787
23andMers875989787
23andMe allrs875989787
SNP Nexus

SNPshotrs875989787
SNPdbers875989787
MSV3drs875989787
GWAS Ctlgrs875989787
Max Magnitude0
ClinVar
Risk rs875989787(T;T)
Alt rs875989787(T;T)
Reference rs875989787(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.64974264C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000211052.1,