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: 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: rs765885747
rs765885747
FKRP
1.000 0.120 19 46756378 stop gained G/C;T snv 4.4E-05; 2.5E-05
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 4 2003 2013
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: 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: 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
dbSNP: rs1555738201
rs1555738201
FKRP
1.000 0.120 19 46755664 stop gained C/T snv
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738502
rs1555738502
FKRP
1.000 0.120 19 46755976 stop gained C/T snv
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738753
rs1555738753
FKRP
1.000 0.120 19 46756228 stop gained G/T 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
dbSNP: rs752731569
rs752731569
FKRP
1.000 0.120 19 46755527 stop gained G/A;T snv 8.4E-06 7.0E-06
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs886044183
rs886044183
FKRP
0.925 0.160 19 46756420 stop gained G/A;C;T snv
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 0
dbSNP: rs886044183
rs886044183
FKRP
0.925 0.160 19 46756420 stop gained G/A;C;T snv
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.730 1.000 22 2001 2018
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.710 1.000 10 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: rs104894692
rs104894692
FKRP
0.882 0.160 19 46756369 missense variant T/A snv 6.3E-06 1.4E-05
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.800 1.000 6 2001 2018
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.830 1.000 6 2001 2018
dbSNP: rs770711331
rs770711331
FKRP
0.925 0.160 19 46755716 missense variant C/T snv 1.5E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 6 2005 2009
dbSNP: rs104894692
rs104894692
FKRP
0.882 0.160 19 46756369 missense variant T/A snv 6.3E-06 1.4E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 5 2003 2008
dbSNP: rs543163491
rs543163491
FKRP
0.827 0.160 19 46755995 missense variant A/G;T snv 8.2E-05; 6.8E-06
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.800 1.000 5 2001 2018
dbSNP: rs563033008
rs563033008
FKRP
0.925 0.160 19 46756348 missense variant G/A snv 3.2E-05 3.1E-04
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 4 2003 2017
dbSNP: rs770711331
rs770711331
FKRP
0.925 0.160 19 46755716 missense variant C/T snv 1.5E-05
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 1.000 4 2006 2009
dbSNP: rs104894691
rs104894691
FKRP
0.925 0.160 19 46756349 missense variant T/C snv 6.4E-06 4.2E-05
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 3 2003 2014