DHCR7, 7-dehydrocholesterol reductase, 1717

N. diseases: 266; N. variants: 96
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: rs138659167
rs138659167
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 16 1994 2013