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 The common splice mutation in intron 2 (459 + 1G-->A) causing, in homozygosity, late-infantile metachromatic leukodystrophy and the common missense mutation in exon 8 (P426L) causing, in homozygosity, adult or juvenile metachromatic leukodystrophy were found to abolish Bst NI and Aci I sites, respectively. 7847447

1995
dbSNP: rs28940893
rs28940893
ARSA
A 0.710 CausalMutation CLINVAR