Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs543163491
rs543163491
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs28937905
rs28937905
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		T 0.800 CausalMutation CLINVAR

dbSNP: rs104894692
rs104894692
FKRP
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 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894692
rs104894692
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894691
rs104894691
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		C 0.800 CausalMutation CLINVAR

dbSNP: rs104894684
rs104894684
FKRP
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 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894681
rs104894681
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs28937900
rs28937900
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		A 0.710 CausalMutation CLINVAR

dbSNP: rs886044183
rs886044183
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886044183
rs886044183
FKRP
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886043706
rs886043706
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041004
rs886041004
FKRP
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 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs775681117
rs775681117
FKRP
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs753811189
rs753811189
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs752731569
rs752731569
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs587780334
rs587780334
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs587777823
rs587777823
FKRP
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 		GTACC 0.700 CausalMutation CLINVAR

dbSNP: rs587777223
rs587777223
FKRP
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 		G 0.700 CausalMutation CLINVAR

dbSNP: rs543163491
rs543163491
FKRP
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 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs543163491
rs543163491
FKRP
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 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs543163491
rs543163491
FKRP
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
MUSCULAR DYSTROPHY, CONGENITAL, 1C 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs28937900
rs28937900
FKRP
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28937900
rs28937900
FKRP
CUI: C0040264
Disease: Tinnitus
Tinnitus 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28937900
rs28937900
FKRP
CUI: C0231274
Disease: Intolerant of heat
Intolerant of heat 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28937900
rs28937900
FKRP
CUI: C0522055
Disease: Electrocardiogram abnormal
Electrocardiogram abnormal 		A 0.700 CausalMutation CLINVAR