Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554041295
rs1554041295
ZSWIM6
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		T 0.700 CausalMutation CLINVAR A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. 29198722

2017