Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338759
rs80338759
MED12
0.810 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317

2013
dbSNP: rs80338759
rs80338759
MED12
0.810 GeneticVariation UNIPROT The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. 17369503

2007
dbSNP: rs80338759
rs80338759
MED12
G 0.810 CausalMutation CLINVAR

dbSNP: rs765417606
rs765417606
MED12
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80338758
rs80338758
MED12
T 0.700 CausalMutation CLINVAR