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: 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: 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: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		0.710 1.000 0 2001 2001
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		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: C1845155
Disease: Exercise-induced myoglobinuria
Exercise-induced myoglobinuria 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C4024883
Disease: Hyperextensible skin of face
Hyperextensible skin of face 		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: 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: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0040264
Disease: Tinnitus
Tinnitus 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		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: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		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: C0013404
Disease: Dyspnea
Dyspnea 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0240953
Disease: Winged scapula
Winged scapula 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0233794
Disease: Memory impairment
Memory impairment 		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: C0518656
Disease: Chronic fatigue
Chronic fatigue 		0.700 0
dbSNP: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0