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: rs1057518918
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.700 0