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rs376107921

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376107921(A;A)
Make rs376107921(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42399617
GeneCAPN3
is asnp
is mentioned by
dbSNPrs376107921
ebirs376107921
HLIrs376107921
Exacrs376107921
Varsomers376107921
Maprs376107921
PheGenIrs376107921
hapmaprs376107921
1000 genomesrs376107921
hgdprs376107921
ensemblrs376107921
gopubmedrs376107921
geneviewrs376107921
scholarrs376107921
googlers376107921
pharmgkbrs376107921
gwascentralrs376107921
openSNPrs376107921
23andMers376107921
23andMe allrs376107921
SNP Nexus

SNPshotrs376107921
SNPdbers376107921
MSV3drs376107921
GWAS Ctlgrs376107921
Max Magnitude0
ClinVar
Risk rs376107921(A,C;A,C)
Alt rs376107921(A,C;A,C)
Reference rs376107921(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.42691815G>A
CLNSRC Quest Diagnostics
CLNACC RCV000196140.1, RCV000201096.1,