ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Disease: Low-set, posteriorly rotated ears ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907144
rs387907144 		0.716 0.600 6 157181056 stop gained C/A;T snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 1.000 2 2012 2015
dbSNP: rs387907141
rs387907141 		0.752 0.360 6 157181137 stop gained C/T snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs876657380
rs876657380 		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