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

rs775453643

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs775453643(C;C)
Make rs775453643(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42396801
GeneCAPN3
is asnp
is mentioned by
dbSNPrs775453643
ebirs775453643
HLIrs775453643
Exacrs775453643
Varsomers775453643
Maprs775453643
PheGenIrs775453643
hapmaprs775453643
1000 genomesrs775453643
hgdprs775453643
ensemblrs775453643
gopubmedrs775453643
geneviewrs775453643
scholarrs775453643
googlers775453643
pharmgkbrs775453643
gwascentralrs775453643
openSNPrs775453643
23andMers775453643
23andMe allrs775453643
SNP Nexus

SNPshotrs775453643
SNPdbers775453643
MSV3drs775453643
GWAS Ctlgrs775453643
Max Magnitude0
ClinVar
Risk rs775453643(C;C)
Alt rs775453643(C;C)
Reference rs775453643(T;T)
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.42688999T>C
CLNSRC Quest Diagnostics
CLNACC RCV000201159.1,