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rs557164942

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs557164942(C;T)
Make rs557164942(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42401763
GeneCAPN3
is asnp
is mentioned by
dbSNPrs557164942
ebirs557164942
HLIrs557164942
Exacrs557164942
Varsomers557164942
Maprs557164942
PheGenIrs557164942
hapmaprs557164942
1000 genomesrs557164942
hgdprs557164942
ensemblrs557164942
gopubmedrs557164942
geneviewrs557164942
scholarrs557164942
googlers557164942
pharmgkbrs557164942
gwascentralrs557164942
openSNPrs557164942
23andMers557164942
23andMe allrs557164942
SNP Nexus

SNPshotrs557164942
SNPdbers557164942
MSV3drs557164942
GWAS Ctlgrs557164942
Max Magnitude0
ClinVar
Risk rs557164942(T;T)
Alt rs557164942(T;T)
Reference rs557164942(C;C)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN not provided Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42693961C>T
CLNSRC Quest Diagnostics
CLNACC RCV000173976.1, RCV000201107.1,