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rs149095128

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs149095128(A;A)
Make rs149095128(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42411299
GeneCAPN3
is asnp
is mentioned by
dbSNPrs149095128
ebirs149095128
HLIrs149095128
Exacrs149095128
Varsomers149095128
Maprs149095128
PheGenIrs149095128
hapmaprs149095128
1000 genomesrs149095128
hgdprs149095128
ensemblrs149095128
gopubmedrs149095128
geneviewrs149095128
scholarrs149095128
googlers149095128
pharmgkbrs149095128
gwascentralrs149095128
openSNPrs149095128
23andMers149095128
23andMe allrs149095128
SNP Nexus

SNPshotrs149095128
SNPdbers149095128
MSV3drs149095128
GWAS Ctlgrs149095128
Max Magnitude0
ClinVar
Risk rs149095128(A;A)
Alt rs149095128(A;A)
Reference rs149095128(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.42703497C>A
CLNSRC HGMD
CLNACC RCV000078095.4, RCV000201145.1,