Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499733
rs1060499733
DHX30
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs113994063
rs113994063
EIF2B5
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs12720458
rs12720458
KCNQ1
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		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: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555454508
rs1555454508
SPG11
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		ATC 0.700 CausalMutation CLINVAR

dbSNP: rs1557569831
rs1557569831
SZT2
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1567263168
rs1567263168
CREBBP
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569190079
rs1569190079
PDHA1
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs201650281
rs201650281
KARS1
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs312262717
rs312262717
SPG11
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		C 0.700 CausalMutation CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956

2009
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587777446
rs587777446
IFIH1
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs587783772
rs587783772
MTM1
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs61751035
rs61751035
RPS6KC1
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs61752717
rs61752717
MEFV
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs746200792
rs746200792
SZT2
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs772410450
rs772410450
KARS1
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		C 0.700 CausalMutation CLINVAR

dbSNP: rs782736894
rs782736894
BPTF
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		A 0.700 GeneticVariation CLINVAR