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: 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
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0518656
Disease: Chronic fatigue
Chronic fatigue 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C4022858
Disease: Elevated aldolase level
Elevated aldolase level 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0042571
Disease: Vertigo
Vertigo 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C0030252
Disease: Palpitations
Palpitations 		0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv
CUI: C4024883
Disease: Hyperextensible skin of face
Hyperextensible skin of face 		0.700 0