Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59962885
rs59962885
DES
0.710 GeneticVariation BEFREE Herein is reported an autopsy case of a 57-year-old Japanese man with adult-onset skeletal muscle weakness and atrioventricular (A-V) conducting block, with a missense A337P mutation in exon 5 of the desmin gene. 17199740

2007
dbSNP: rs59962885
rs59962885
DES
C 0.710 CausalMutation CLINVAR

dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074

2018
dbSNP: rs867410737
rs867410737
ATP5F1D
T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018
dbSNP: rs1114167445
rs1114167445
SPTBN4
T 0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 22638997

2012
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
T 0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928

2010
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR Mitochondrial disorder associated with newborn cardiopulmonary arrest. 8511015

1993
dbSNP: rs1057518805
rs1057518805
SYT2 ; LOC105371686
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518957
rs1057518957
CHRND
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518958
rs1057518958
CHRND
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518962
rs1057518962
DMD
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064795559
rs1064795559
MORC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064795760
rs1064795760
BICD2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1217391623
rs1217391623
SPG7
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs1256028809
rs1256028809
RTTN
T 0.700 CausalMutation CLINVAR

dbSNP: rs138977195
rs138977195
SLC12A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs146539065
rs146539065
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554699491
rs1554699491
AGTPBP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555206402
rs1555206402
HMBS
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555358382
rs1555358382
GCH1
A 0.700 GeneticVariation CLINVAR