Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253747
rs879253747
ARID1B
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		T 0.700 CausalMutation CLINVAR

dbSNP: rs879253747
rs879253747
ARID1B
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs879253747
rs879253747
ARID1B
CUI: C1854882
Disease: Absent speech
Absent speech 		T 0.700 CausalMutation CLINVAR

dbSNP: rs879253747
rs879253747
ARID1B
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		T 0.700 CausalMutation CLINVAR

dbSNP: rs879253747
rs879253747
ARID1B
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		T 0.700 CausalMutation CLINVAR

dbSNP: rs879253747
rs879253747
ARID1B
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 CausalMutation CLINVAR