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: rs200056620
rs200056620
POMT1
0.882 0.120 9 131513243 stop gained C/G;T snv 4.0E-06; 3.6E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 2 2002 2016
dbSNP: rs200056620
rs200056620
POMT1
0.882 0.120 9 131513243 stop gained C/G;T snv 4.0E-06; 3.6E-05
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 2 2002 2016
dbSNP: rs200056620
rs200056620
POMT1
0.882 0.120 9 131513243 stop gained C/G;T snv 4.0E-06; 3.6E-05
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 1.000 2 2002 2016
dbSNP: rs119462981
rs119462981
POMT1
1.000 0.120 9 131510401 stop gained C/T snv 7.0E-06
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		0.700 0
dbSNP: rs119462985
rs119462985
POMT1 ; LOC105376301
0.925 0.120 9 131518945 stop gained C/G;T snv 4.0E-06
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 0
dbSNP: rs1554780670
rs1554780670
POMT1 ; LOC105376301
0.882 0.120 9 131518533 stop gained T/G snv
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 0
dbSNP: rs1554780670
rs1554780670
POMT1 ; LOC105376301
0.882 0.120 9 131518533 stop gained T/G snv
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 0
dbSNP: rs1554780670
rs1554780670
POMT1 ; LOC105376301
0.882 0.120 9 131518533 stop gained T/G snv
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 0
dbSNP: rs765230689
rs765230689
POMT1
0.882 0.120 9 131512044 stop gained T/A;C snv 8.0E-06
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		0.700 0
dbSNP: rs765230689
rs765230689
POMT1
0.882 0.120 9 131512044 stop gained T/A;C snv 8.0E-06
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 0
dbSNP: rs765230689
rs765230689
POMT1
0.882 0.120 9 131512044 stop gained T/A;C snv 8.0E-06
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 0
dbSNP: rs772370177
rs772370177
POMT1
1.000 0.120 9 131509761 stop gained G/A;T snv 1.2E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 0
dbSNP: rs794727208
rs794727208
POMT1
0.882 0.120 9 131521445 stop gained C/T snv 4.2E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 0
dbSNP: rs794727208
rs794727208
POMT1
0.882 0.120 9 131521445 stop gained C/T snv 4.2E-05
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 0
dbSNP: rs794727208
rs794727208
POMT1
0.882 0.120 9 131521445 stop gained C/T snv 4.2E-05
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 0
dbSNP: rs119462987
rs119462987
POMT1
0.882 0.120 9 131522160 missense variant G/A snv 1.4E-05
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.800 1.000 5 2006 2012
dbSNP: rs119462987
rs119462987
POMT1
0.882 0.120 9 131522160 missense variant G/A snv 1.4E-05
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 5 2006 2012
dbSNP: rs119462987
rs119462987
POMT1
0.882 0.120 9 131522160 missense variant G/A snv 1.4E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 5 2006 2012
dbSNP: rs149682171
rs149682171
POMT1
0.882 0.120 9 131522113 missense variant C/T snv 6.0E-05 2.8E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.710 1.000 1 2014 2014
dbSNP: rs149682171
rs149682171
POMT1
0.882 0.120 9 131522113 missense variant C/T snv 6.0E-05 2.8E-05
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.700 1.000 1 2014 2014
dbSNP: rs149682171
rs149682171
POMT1
0.882 0.120 9 131522113 missense variant C/T snv 6.0E-05 2.8E-05
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 1 2014 2014
dbSNP: rs119462982
rs119462982
POMT1
1.000 0.120 9 131509801 missense variant G/C snv 8.0E-06
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.800 0
dbSNP: rs119462983
rs119462983
POMT1
1.000 9 131506184 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.800 0
dbSNP: rs119462984
rs119462984
POMT1 ; LOC105376301
1.000 9 131520175 missense variant G/C snv
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.800 0
dbSNP: rs119462986
rs119462986
POMT1
1.000 9 131521351 missense variant G/C snv 4.0E-06
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		0.800 0