rs375817528

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs375817528(A;A)

Make rs375817528(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

11

Position

65206824

Gene

CAPN1

is a	snp
is	mentioned by
dbSNP	rs375817528
dbSNP (classic)	rs375817528
ClinGen	rs375817528
ebi	rs375817528
HLI	rs375817528
Exac	rs375817528
Gnomad	rs375817528
Varsome	rs375817528
LitVar	rs375817528
Map	rs375817528
PheGenI	rs375817528
Biobank	rs375817528
1000 genomes	rs375817528
hgdp	rs375817528
ensembl	rs375817528
geneview	rs375817528
scholar	rs375817528
google	rs375817528
pharmgkb	rs375817528
gwascentral	rs375817528
openSNP	rs375817528
23andMe	rs375817528
SNPshot	rs375817528
SNPdbe	rs375817528
MSV3d	rs375817528
GWAS Ctlg	rs375817528

Max Magnitude

0

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,