ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Disease: Hypertrichosis ×
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: rs1057518918
rs1057518918 		0.882 0.160 6 157184329 frameshift variant C/- delins
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518951
rs1057518951 		0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs876657380
rs876657380 		0.851 0.360 6 157181155 frameshift variant AA/- delins
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		Skin and Connective Tissue Diseases 0.700 0