rs11555217, DHCR7

N. diseases: 5
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 0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 0.750 1.000 13 1998 2012
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 0.700 0
Elevated 7-dehydrocholesterol
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
3 0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04 0.700 0