Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518083
rs1057518083
DYNC1H1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518848
rs1057518848
TCF4
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1057519437
rs1057519437
EBF3
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1557781252
rs1557781252
GATAD2B
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1559931177
rs1559931177
QRICH1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1565091862
rs1565091862
KCNMA1 ; KCNMA1-AS1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1565930588
rs1565930588
HSPB8
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362

2018
dbSNP: rs1565930588
rs1565930588
HSPB8
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893

2017
dbSNP: rs1565930588
rs1565930588
HSPB8
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 GeneticVariation CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520

2016
dbSNP: rs267607261
rs267607261
MPV17
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 CausalMutation CLINVAR

dbSNP: rs368900406
rs368900406
MPV17
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs587782995
rs587782995
PURA
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs587784177
rs587784177
NSD1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		A 0.700 CausalMutation CLINVAR

dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs752298579
rs752298579
TANGO2
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
dbSNP: rs776095655
rs776095655
SLC2A1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
dbSNP: rs776095655
rs776095655
SLC2A1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012
dbSNP: rs776095655
rs776095655
SLC2A1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602

2011
dbSNP: rs780533096
rs780533096
MIPEP
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs797044519
rs797044519
DYRK1A
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044522
rs797044522
DYRK1A
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		G 0.700 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs797044524
rs797044524
DYRK1A ; LOC105372797
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015