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: 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: 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
dbSNP: rs28941782
rs28941782
POMT1
1.000 0.120 9 131506217 missense variant G/A snv
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 		0.800 1.000 0 2002 2010
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: rs398124245
rs398124245
POMT1
0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 6 2002 2014
dbSNP: rs398124245
rs398124245
POMT1
0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 6 2002 2014
dbSNP: rs398124245
rs398124245
POMT1
0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04
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 6 2002 2014
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: rs766648827
rs766648827
POMT1
0.882 0.120 9 131509809 splice donor variant G/C;T snv 4.0E-06 7.0E-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 1.000 5 2002 2012
dbSNP: rs766648827
rs766648827
POMT1
0.882 0.120 9 131509809 splice donor variant G/C;T snv 4.0E-06 7.0E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 5 2002 2012
dbSNP: rs766648827
rs766648827
POMT1
0.882 0.120 9 131509809 splice donor variant G/C;T snv 4.0E-06 7.0E-06
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 5 2002 2012
dbSNP: rs1453773610
rs1453773610
POMT1
0.882 0.120 9 131512039 splice acceptor variant A/C;T snv 7.0E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 3 2002 2006
dbSNP: rs1453773610
rs1453773610
POMT1
0.882 0.120 9 131512039 splice acceptor variant A/C;T snv 7.0E-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 1.000 3 2002 2006
dbSNP: rs1453773610
rs1453773610
POMT1
0.882 0.120 9 131512039 splice acceptor variant A/C;T snv 7.0E-06
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 3 2002 2006
dbSNP: rs1564365317
rs1564365317
POMT1
0.882 0.120 9 131515524 splice donor variant T/C snv
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 3 2002 2006
dbSNP: rs1564365317
rs1564365317
POMT1
0.882 0.120 9 131515524 splice donor variant T/C snv
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 3 2002 2006
dbSNP: rs1564365317
rs1564365317
POMT1
0.882 0.120 9 131515524 splice donor variant T/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 		0.700 1.000 3 2002 2006
dbSNP: rs1564364615
rs1564364615
POMT1
0.882 0.120 9 131515445 frameshift variant CT/- del
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		0.700 1.000 2 2007 2008
dbSNP: rs1564364615
rs1564364615
POMT1
0.882 0.120 9 131515445 frameshift variant CT/- del
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 2 2007 2008
dbSNP: rs1564364615
rs1564364615
POMT1
0.882 0.120 9 131515445 frameshift variant CT/- del
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 2007 2008
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