ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Disease: Thick lower lip vermilion ×
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: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 1.000 2 2012 2015
dbSNP: rs879253745
rs879253745 		0.925 0.240 6 157181040 frameshift variant AA/- delins
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 0
dbSNP: rs879253746
rs879253746 		0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 0
dbSNP: rs879253747
rs879253747 		0.925 0.240 6 157167101 stop gained C/T snv
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 0
dbSNP: rs879253856
rs879253856 		0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		0.700 0