rs80338857, DHCR7

N. diseases: 1
Source: ALL
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.
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
96 1.000 0.080 11 71438985 missense variant C/T snv 2.0E-05 3.5E-05 0.800 1.000 15 1998 2015