rs773607884, TRIM36

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Anencephaly
CUI: C0002902
Disease: Anencephaly
0.010 GeneticVariation BEFREE In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C > A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive APH in an Indian family. 28087737 2017