rs104886033, DHCR7

N. diseases: 10
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 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 1.000 7 1998 2014
Hypoplasia of thumb
CUI: C0431890
Disease: Hypoplasia of thumb
3 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
Microretrognathia
CUI: C1839546
Disease: Microretrognathia
6 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
Periorbital wrinkles
CUI: C1844605
Disease: Periorbital wrinkles
1 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
Rudimentary postaxial polydactyly of hands
CUI: C4025158
Disease: Rudimentary postaxial polydactyly of hands
1 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
Sandal gap
CUI: C1840069
Disease: Sandal gap
6 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
Simple syndactyly of toes, first web space
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
3 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
Thumb deformity
CUI: C0575897
Disease: Thumb deformity
7 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0