Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908332
rs121908332
KCNK9
CUI: C2676770
Disease: Birk-Barel Mental Retardation Dysmorphism Syndrome
Birk-Barel Mental Retardation Dysmorphism Syndrome 		T 0.820 CausalMutation CLINVAR Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. 18678320

2008
dbSNP: rs121908332
rs121908332
KCNK9
CUI: C2676770
Disease: Birk-Barel Mental Retardation Dysmorphism Syndrome
Birk-Barel Mental Retardation Dysmorphism Syndrome 		G 0.820 CausalMutation CLINVAR Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. 18678320

2008