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: rs1554599036
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 20 1999 2016