Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882139
rs730882139
DNAJB2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs730882140
rs730882140
DNAJB2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		G 0.700 CausalMutation CLINVAR

dbSNP: rs749850181
rs749850181
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs756461496
rs756461496
GDAP1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		CT 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs756880678
rs756880678
LRSAM1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs760730366
rs760730366
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs781249411
rs781249411
MARS1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs797044801
rs797044801
AARS1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		G 0.700 CausalMutation CLINVAR

dbSNP: rs797044802
rs797044802
IGHMBP2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797044803
rs797044803
IGHMBP2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs80356814
rs80356814
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs863225026
rs863225026
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs864622180
rs864622180
PMP22
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs864622664
rs864622664
SH3TC2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		G 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs886041386
rs886041386
GDAP1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		C 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014