Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0024433
Disease: Macrostomia
Macrostomia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1840069
Disease: Sandal gap
Sandal gap 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0266324
Disease: Congenital dilatation of ureter
Congenital dilatation of ureter 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0277960
Disease: Dry hair
Dry hair 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0027092
Disease: Myopia
Myopia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		T 0.700 CausalMutation CLINVAR