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: 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: 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: rs886042506
rs886042506
FKRP
0.925 0.160 19 46755610 frameshift variant -/GGAG delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 2 2001 2008
dbSNP: rs1191737604
rs1191737604
FKRP
1.000 0.120 19 46756004 frameshift variant C/-;CC delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 1 2013 2013
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: rs1555738823
rs1555738823
FKRP
1.000 0.120 19 46756309 frameshift variant TTCGGCTGCAA/- del
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 1 2016 2016
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: 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: rs886042506
rs886042506
FKRP
0.925 0.160 19 46755610 frameshift variant -/GGAG delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 1 2001 2001
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: 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: 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: 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: rs104894689
rs104894689
FKRP
1.000 0.120 19 46756214 stop gained G/A snv
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: 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: rs1290836394
rs1290836394
FKRP
1.000 0.120 19 46755605 frameshift variant -/TGCGG delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 0
dbSNP: rs1483781400
rs1483781400
FKRP
1.000 0.120 19 46756381 stop gained G/A;T snv
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0