Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C1856118
Disease: Prominent nasal tip
Prominent nasal tip 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C3150613
Disease: Long toe
Long toe 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0