Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752171066
rs752171066
TMEM107 ; SNORD118 ; LOC105371520
T 0.700 CausalMutation CLINVAR TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome. 26518474

2016
dbSNP: rs752171066
rs752171066
TMEM107 ; SNORD118 ; LOC105371520
T 0.700 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014