rs80338864, DHCR7

N. diseases: 1
Source: CURATED ×
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
92 1.000 0.080 11 71435461 missense variant C/G;T snv 1.2E-05; 3.6E-05 0.800 1.000 14 1998 2015