Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908078
rs121908078
0.710 GeneticVariation BEFREE T512K is a second rare "Finnish" mutation that results in DLCD at homozygosity and in DTD when compounded with the milder, common Finnish mutation. 18708426

2008

dbSNP: rs121908078
rs121908078
A 0.710 CausalMutation CLINVAR