rs779896782, 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.
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 0.700 0
Elevated 7-dehydrocholesterol
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
3 0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 0.700 0
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
96 0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06 0.700 0