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rs762471207

From SNPedia

Orientationplus
Make rs762471207(-;-)
Make rs762471207(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42409369
GeneCAPN3
is asnp
is mentioned by
dbSNPrs762471207
ebirs762471207
HLIrs762471207
Exacrs762471207
Varsomers762471207
Maprs762471207
PheGenIrs762471207
hapmaprs762471207
1000 genomesrs762471207
hgdprs762471207
ensemblrs762471207
gopubmedrs762471207
geneviewrs762471207
scholarrs762471207
googlers762471207
pharmgkbrs762471207
gwascentralrs762471207
openSNPrs762471207
23andMers762471207
23andMe allrs762471207
SNP Nexus

SNPshotrs762471207
SNPdbers762471207
MSV3drs762471207
GWAS Ctlgrs762471207
Max Magnitude
ClinVar
Risk rs762471207(;)
Alt rs762471207(;)
Reference rs762471207(A;A)
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.42701567delA
CLNSRC Quest Diagnostics
CLNACC RCV000175119.2,