Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159994
rs724159994
IGHMBP2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		C 0.700 CausalMutation CLINVAR

dbSNP: rs724159958
rs724159958
IGHMBP2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		G 0.700 CausalMutation CLINVAR

dbSNP: rs372000714
rs372000714
IGHMBP2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137852667
rs137852667
IGHMBP2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121908160
rs121908160
KIF1B
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs59885338
rs59885338
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.730 CausalMutation CLINVAR

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

dbSNP: rs60864230
rs60864230
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs57318642
rs57318642
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 CausalMutation CLINVAR

dbSNP: rs142000963
rs142000963
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 GeneticVariation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs142000963
rs142000963
LMNA
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.700 GeneticVariation CLINVAR Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 18478590

2008
dbSNP: rs786200930
rs786200930
LRSAM1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		CCG 0.710 CausalMutation CLINVAR

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

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

dbSNP: rs145770066
rs145770066
MED25 ; MIR6800
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR

dbSNP: rs119103268
rs119103268
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs119103268
rs119103268
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations. 18425620

2008
dbSNP: rs119103268
rs119103268
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
dbSNP: rs119103268
rs119103268
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		T 0.710 CausalMutation CLINVAR Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2. 21531138

2011
dbSNP: rs28940294
rs28940294
MFN2
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.700 CausalMutation CLINVAR MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. 16714318

2006
dbSNP: rs121913595
rs121913595
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.760 CausalMutation CLINVAR

dbSNP: rs121913597
rs121913597
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		A 0.710 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: 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: rs1553259703
rs1553259703
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