Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 7 1998 2014
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		0.700 0
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		0.700 0
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		0.700 0
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C1840069
Disease: Sandal gap
Sandal gap 		0.700 0
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0432040
Disease: Simple syndactyly of toes, first web space
Simple syndactyly of toes, first web space 		0.700 0
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.700 0
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C4025158
Disease: Rudimentary postaxial polydactyly of hands
Rudimentary postaxial polydactyly of hands 		0.700 0
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs104886033
rs104886033
DHCR7
0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05
CUI: C1844605
Disease: Periorbital wrinkles
Periorbital wrinkles 		0.700 0