rs387906940, DHCR24

N. diseases: 1
Source: UNIPROT ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Desmosterolosis
CUI: C1865596
Disease: Desmosterolosis
6 1.000 0.080 1 54852346 missense variant C/T snv 8.0E-06 0.800 1.000 2 2001 2011