PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554675388
rs1554675388 		0.827 0.160 8 143918471 stop gained G/A snv
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 4 1996 2013
dbSNP: rs1554689309
rs1554689309 		0.827 0.160 8 143922314 frameshift variant AGGC/- delins
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 3 1996 2010
dbSNP: rs1554683108
rs1554683108 		0.827 0.160 8 143920820 stop gained GC/AA mnv
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 2 2000 2013
dbSNP: rs111730406
rs111730406 		0.827 0.160 8 143927993 splice acceptor variant C/G;T snv
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 1 2013 2013
dbSNP: rs1060499581
rs1060499581 		0.827 0.160 8 143934427 stop gained G/A snv
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 0
dbSNP: rs864309673
rs864309673 		1.000 8 143973464 start lost CATGCCGGC/- delins
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 0