rs80338859, 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 71435827 missense variant C/A snv 1.7E-05 4.9E-05 0.850 1.000 15 1998 2017