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rs141656719

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141656719(C;T)
Make rs141656719(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position42401754
GeneCAPN3
is asnp
is mentioned by
dbSNPrs141656719
ebirs141656719
HLIrs141656719
Exacrs141656719
Varsomers141656719
Maprs141656719
PheGenIrs141656719
hapmaprs141656719
1000 genomesrs141656719
hgdprs141656719
ensemblrs141656719
gopubmedrs141656719
geneviewrs141656719
scholarrs141656719
googlers141656719
pharmgkbrs141656719
gwascentralrs141656719
openSNPrs141656719
23andMers141656719
23andMe allrs141656719
SNP Nexus

SNPshotrs141656719
SNPdbers141656719
MSV3drs141656719
GWAS Ctlgrs141656719
Max Magnitude0
ClinVar
Risk rs141656719(T;T)
Alt rs141656719(T;T)
Reference rs141656719(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.42693952C>T
CLNSRC HGMD
CLNACC RCV000152924.2, RCV000173975.2,