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: rs758058910
rs758058910
CAPN3
1.000 0.120 15 42360096 missense variant C/A;T snv 4.0E-06 1.4E-05
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0
dbSNP: rs758058910
rs758058910
CAPN3
1.000 0.120 15 42360096 missense variant C/A;T snv 4.0E-06 1.4E-05
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.700 0
dbSNP: rs758058910
rs758058910
CAPN3
1.000 0.120 15 42360096 missense variant C/A;T snv 4.0E-06 1.4E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		0.700 0