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: rs104894691
rs104894691
FKRP
0.925 0.160 19 46756349 missense variant T/C snv 6.4E-06 4.2E-05
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.800 1.000 3 2001 2018
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: rs1247934219
rs1247934219
FKRP
1.000 0.120 19 46756273 missense variant C/T snv 1.7E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 2 2007 2013
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: rs543163491
rs543163491
FKRP
0.827 0.160 19 46755995 missense variant A/G;T snv 8.2E-05; 6.8E-06
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 2 2016 2018
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: rs28937905
rs28937905
FKRP
1.000 0.120 19 46755610 missense variant C/G;T snv 8.6E-06; 4.3E-06
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.800 1.000 1 2001 2018
dbSNP: rs398124395
rs398124395
FKRP
1.000 0.120 19 46756391 missense variant C/A;T snv 6.1E-06
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.800 1.000 1 2010 2010
dbSNP: rs104894679
rs104894679
FKRP
1.000 0.120 19 46756376 missense variant A/G snv 6.3E-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: 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: rs104894684
rs104894684
FKRP
1.000 19 46756403 missense variant G/A snv
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 		0.800 1.000 0 2004 2004
dbSNP: rs104894692
rs104894692
FKRP
0.882 0.160 19 46756369 missense variant T/A snv 6.3E-06 1.4E-05
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 		0.800 1.000 0 2004 2004
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: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0030252
Disease: Palpitations
Palpitations 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
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: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0042571
Disease: Vertigo
Vertigo 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0030193
Disease: Pain
Pain 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C1850438
Disease: Postural hypotension with compensatory tachycardia
Postural hypotension with compensatory tachycardia 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.700 0