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rs727503839

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503839(G;T)
Make rs727503839(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position42402956
GeneCAPN3
is asnp
is mentioned by
dbSNPrs727503839
ebirs727503839
HLIrs727503839
Exacrs727503839
Varsomers727503839
Maprs727503839
PheGenIrs727503839
hapmaprs727503839
1000 genomesrs727503839
hgdprs727503839
ensemblrs727503839
gopubmedrs727503839
geneviewrs727503839
scholarrs727503839
googlers727503839
pharmgkbrs727503839
gwascentralrs727503839
openSNPrs727503839
23andMers727503839
23andMe allrs727503839
SNP Nexus

SNPshotrs727503839
SNPdbers727503839
MSV3drs727503839
GWAS Ctlgrs727503839
Max Magnitude0
ClinVar
Risk rs727503839(T;T)
Alt rs727503839(T;T)
Reference rs727503839(G;G)
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.42695154G>T
CLNSRC HGMD
CLNACC RCV000152925.2, RCV000174442.1,