Have questions? Visit https://www.reddit.com/r/SNPedia

rs778768583

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs778768583(C;C)
Make rs778768583(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42410958
GeneCAPN3
is asnp
is mentioned by
dbSNPrs778768583
ebirs778768583
HLIrs778768583
Exacrs778768583
Varsomers778768583
Maprs778768583
PheGenIrs778768583
hapmaprs778768583
1000 genomesrs778768583
hgdprs778768583
ensemblrs778768583
gopubmedrs778768583
geneviewrs778768583
scholarrs778768583
googlers778768583
pharmgkbrs778768583
gwascentralrs778768583
openSNPrs778768583
23andMers778768583
23andMe allrs778768583
SNP Nexus

SNPshotrs778768583
SNPdbers778768583
MSV3drs778768583
GWAS Ctlgrs778768583
Max Magnitude0
ClinVar
Risk rs778768583(C;C)
Alt rs778768583(C;C)
Reference rs778768583(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42703156G>C
CLNSRC
CLNACC RCV000176251.1,