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: rs104894682
rs104894682
FKRP
0.925 0.160 19 46756936 stop lost T/A snv 8.1E-06 1.4E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 0
dbSNP: rs104894682
rs104894682
FKRP
0.925 0.160 19 46756936 stop lost T/A snv 8.1E-06 1.4E-05
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555739333
rs1555739333
FKRP
1.000 0.120 19 46756925 frameshift variant C/- del
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 1 2004 2004
dbSNP: rs1301397800
rs1301397800
FKRP
1.000 0.120 19 46756883 missense variant T/C snv 4.1E-06 7.0E-06
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 2 2008 2009
dbSNP: rs121908110
rs121908110
FKRP
0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 1 2007 2007
dbSNP: rs121908110
rs121908110
FKRP
0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05
CUI: C4016970
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5 		0.700 0
dbSNP: rs121908110
rs121908110
FKRP
0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs768606230
rs768606230
FKRP
1.000 0.120 19 46756834 missense variant C/T snv 9.0E-06 1.4E-05
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.800 1.000 3 2001 2018
dbSNP: rs28937903
rs28937903
FKRP
0.882 0.160 19 46756814 missense variant C/A;T snv 4.5E-06
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 8 2004 2017
dbSNP: rs28937903
rs28937903
FKRP
0.882 0.160 19 46756814 missense variant C/A;T snv 4.5E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 7 2004 2014
dbSNP: rs104894681
rs104894681
FKRP
0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.800 1.000 0 2001 2010
dbSNP: rs104894681
rs104894681
FKRP
0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs104894681
rs104894681
FKRP
0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06
CUI: C4016970
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5 		0.700 0
dbSNP: rs104894681
rs104894681
FKRP
0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 		0.700 0
dbSNP: rs104894681
rs104894681
FKRP
0.776 0.200 19 46756793 missense variant C/T snv 9.0E-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: rs748087383
rs748087383
FKRP
1.000 0.120 19 46756617 frameshift variant CG/- delins 8.2E-06
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 3 2005 2017
dbSNP: rs104894680
rs104894680
FKRP
1.000 0.120 19 46756604 stop gained C/A;G;T snv 4.1E-06; 1.7E-04
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 4 2001 2004
dbSNP: rs104894680
rs104894680
FKRP
1.000 0.120 19 46756604 stop gained C/A;G;T snv 4.1E-06; 1.7E-04
CUI: C4016970
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5 		0.700 0
dbSNP: rs754403441
rs754403441
FKRP
0.925 0.160 19 46756586 frameshift variant G/-;GG delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 5 2001 2015
dbSNP: rs754403441
rs754403441
FKRP
0.925 0.160 19 46756586 frameshift variant G/-;GG delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 1 2015 2015
dbSNP: rs1555739041
rs1555739041
FKRP
1.000 0.120 19 46756569 frameshift variant C/- del
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1060502109
rs1060502109
FKRP
1.000 0.120 19 46756533 stop gained C/A;G snv 4.5E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 0
dbSNP: rs1568419860
rs1568419860
FKRP
1.000 0.120 19 46756525 frameshift variant -/GG delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 4 2005 2017
dbSNP: rs753811189
rs753811189
FKRP
1.000 0.120 19 46756486 missense variant T/C;G snv
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs587780334
rs587780334
FKRP
1.000 0.120 19 46756477 stop gained G/C;T snv 8.4E-03; 9.0E-06
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0