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rs375817528

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375817528(A;A)
Make rs375817528(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position65206824
GeneCAPN1
is asnp
is mentioned by
dbSNPrs375817528
ebirs375817528
HLIrs375817528
Exacrs375817528
Varsomers375817528
Maprs375817528
PheGenIrs375817528
hapmaprs375817528
1000 genomesrs375817528
hgdprs375817528
ensemblrs375817528
gopubmedrs375817528
geneviewrs375817528
scholarrs375817528
googlers375817528
pharmgkbrs375817528
gwascentralrs375817528
openSNPrs375817528
23andMers375817528
23andMe allrs375817528
SNP Nexus

SNPshotrs375817528
SNPdbers375817528
MSV3drs375817528
GWAS Ctlgrs375817528
Max Magnitude0
ClinVar
Risk rs375817528(A;A)
Alt rs375817528(A;A)
Reference rs375817528(G;G)
Significance Pathogenic
Disease Spastic paraplegia 76
Variation info
Gene CAPN1
CLNDBN Spastic paraplegia 76, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.64974295G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000211055.2,