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rs794727697

From SNPedia

Orientationplus
Make rs794727697(-;-)
Make rs794727697(-;GAA)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42389054
GeneCAPN3
is asnp
is mentioned by
dbSNPrs794727697
ClinGenrs794727697
ebirs794727697
HLIrs794727697
Exacrs794727697
Varsomers794727697
Maprs794727697
PheGenIrs794727697
hapmaprs794727697
1000 genomesrs794727697
hgdprs794727697
ensemblrs794727697
gopubmedrs794727697
geneviewrs794727697
scholarrs794727697
googlers794727697
pharmgkbrs794727697
gwascentralrs794727697
openSNPrs794727697
23andMers794727697
23andMe allrs794727697
SNP Nexus

SNPshotrs794727697
SNPdbers794727697
MSV3drs794727697
GWAS Ctlgrs794727697
Max Magnitude
ClinVar
Risk
Alt
Reference Rs794727697(GAA;GAA)
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.42681252_42681254delGAA
CLNSRC
CLNACC RCV000178708.1,