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: rs587777223
rs587777223
FKRP
1.000 19 46755451 start lost A/G 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 		0.700 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: rs1555738103
rs1555738103
FKRP
1.000 0.120 19 46755588 frameshift variant C/- delins
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		0.700 1.000 4 2001 2012
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: 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: 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: 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: 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: rs1555738149
rs1555738149
FKRP
1.000 0.120 19 46755617 frameshift variant -/AGGCATTTGACAACGCG delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738204
rs1555738204
FKRP
1.000 0.120 19 46755671 frameshift variant -/AGCCC delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738245
rs1555738245
FKRP
1.000 0.120 19 46755717 frameshift variant G/AT delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738311
rs1555738311
FKRP
1.000 0.120 19 46755794 frameshift variant GCGCC/- delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738456
rs1555738456
FKRP
1.000 0.120 19 46755914 frameshift variant T/- del
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738568
rs1555738568
FKRP
1.000 0.120 19 46756012 frameshift variant -/CCCGC delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738651
rs1555738651
FKRP
1.000 0.120 19 46756104 frameshift variant G/- delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738675
rs1555738675
FKRP
1.000 0.120 19 46756131 frameshift variant GGCTGGGCGGTGCAGCTGCTGGACTTGACCTTCGC/- delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738686
rs1555738686
FKRP
1.000 0.120 19 46756136 frameshift variant G/- del
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738764
rs1555738764
FKRP
1.000 0.120 19 46756244 frameshift variant G/-;GGG delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555738883
rs1555738883
FKRP
1.000 0.120 19 46756407 frameshift variant GC/- delins
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0