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: rs879253746
rs879253746
ARID1B
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: rs879253746
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 0
dbSNP: rs879253746
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.700 0
dbSNP: rs879253746
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs879253746
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.700 0
dbSNP: rs879253746
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.700 0