Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs768090444
rs768090444
CAPN3
1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		0.700 1.000 1 2005 2005
dbSNP: rs768090444
rs768090444
CAPN3
1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs768090444
rs768090444
CAPN3
1.000 0.120 15 42410645 stop gained C/G;T snv 4.0E-06 2.1E-05
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0