Source: ALL

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: rs387906939
rs387906939
DHCR24
1.000 0.080 1 54883724 missense variant C/T snv 7.0E-06
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		0.800 1.000 2 2001 2011