Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518843
rs1057518843
GALC
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518962
rs1057518962
DMD
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		T 0.700 CausalMutation CLINVAR

dbSNP: rs118192174
rs118192174
RYR1
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		A 0.700 CausalMutation CLINVAR

dbSNP: rs119103263
rs119103263
MFN2
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
COL7A1
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121912855
rs121912855
COL7A1
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555630216
rs1555630216
PIEZO2
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555648288
rs1555648288
PIEZO2
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs375817528
rs375817528
CAPN1
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs377274761
rs377274761
GALC
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs387906905
rs387906905
TRPV4
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		T 0.700 CausalMutation CLINVAR

dbSNP: rs398123640
rs398123640
COL6A1
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		A 0.700 GeneticVariation CLINVAR