Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940893
rs28940893
ARSA
0.710 GeneticVariation BEFREE P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. 16966551

2006
dbSNP: rs74315457
rs74315457
ARSA
0.710 GeneticVariation BEFREE P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. 16966551

2006
dbSNP: rs28940893
rs28940893
ARSA
A 0.710 CausalMutation CLINVAR

dbSNP: rs74315457
rs74315457
ARSA
C 0.710 CausalMutation CLINVAR

dbSNP: rs121434215
rs121434215
ARSA
G 0.700 CausalMutation CLINVAR

dbSNP: rs28940894
rs28940894
ARSA
G 0.700 CausalMutation CLINVAR

dbSNP: rs28940895
rs28940895
ARSA
A 0.700 CausalMutation CLINVAR

dbSNP: rs74315455
rs74315455
ARSA
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338815
rs80338815
ARSA
T 0.700 CausalMutation CLINVAR