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rs200646556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200646556(C;T)
Make rs200646556(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position42399548
GeneCAPN3
is asnp
is mentioned by
dbSNPrs200646556
dbSNP (old)rs200646556
ClinGenrs200646556
ebirs200646556
HLIrs200646556
Exacrs200646556
Gnomadrs200646556
Varsomers200646556
Maprs200646556
PheGenIrs200646556
Biobankrs200646556
1000 genomesrs200646556
hgdprs200646556
ensemblrs200646556
gopubmedrs200646556
geneviewrs200646556
scholarrs200646556
googlers200646556
pharmgkbrs200646556
gwascentralrs200646556
openSNPrs200646556
23andMers200646556
23andMe allrs200646556
SNPshotrs200646556
SNPdbers200646556
MSV3drs200646556
GWAS Ctlgrs200646556
Max Magnitude0
ClinVar
Risk rs200646556(T;T)
Alt rs200646556(T;T)
Reference Rs200646556(C;C)
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.42691746C>T
CLNSRC
CLNACC RCV000340100.1,