Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778581081
rs778581081
0.010 GeneticVariation BEFREE Sequence analysis revealed that the patients had novel mutations, one nonsense mutation (AS1 (C613X)) and three single base changes leading to amino acid substitutions (AS2 (L321F), AS3 (I274V), and AS4 (M719I)). 11390201

2001