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: rs1032242817
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057516375
rs1057516375
DHCR7
1.000 0.080 11 71435822 stop gained G/T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057516493
rs1057516493
DHCR7
1.000 0.080 11 71435604 stop gained C/A;T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057516517
rs1057516517
DHCR7
1.000 0.080 11 71435722 frameshift variant CA/- delins
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057516610
rs1057516610
DHCR7
1.000 0.080 11 71435812 stop gained G/A;C snv 4.2E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057516618
rs1057516618
DHCR7
1.000 0.080 11 71435808 frameshift variant A/- del
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057516783
rs1057516783
DHCR7
1.000 0.080 11 71438906 frameshift variant A/- del
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057516920
rs1057516920
DHCR7
1.000 0.080 11 71438877 splice donor variant A/T snv 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057516973
rs1057516973
DHCR7
1.000 0.080 11 71437811 splice donor variant C/A snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057516977
rs1057516977
DHCR7
1.000 0.080 11 71444937 stop gained G/A snv 4.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057517070
rs1057517070
DHCR7
1.000 0.080 11 71437810 splice donor variant A/C snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057517210
rs1057517210
DHCR7
1.000 0.080 11 71439084 splice acceptor variant C/T snv 8.0E-06 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1057517307
rs1057517307
DHCR7
1.000 0.080 11 71441441 splice acceptor variant C/T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs121909766
rs121909766
DHCR7
1.000 0.080 11 71437936 missense variant T/C snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1331331095
rs1331331095
DHCR7
0.925 0.080 11 71435394 missense variant A/C;T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1451108193
rs1451108193
DHCR7
1.000 0.080 11 71444216 splice acceptor variant C/G snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1469918162
rs1469918162
DHCR7
1.000 0.080 11 71437840 frameshift variant CA/- delins
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1471145742
rs1471145742
DHCR7
1.000 0.080 11 71441226 splice donor variant C/A;G snv 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1555145605
rs1555145605
DHCR7
1.000 0.080 11 71435657 stop gained G/T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1555145646
rs1555145646
DHCR7
1.000 0.080 11 71435799 frameshift variant G/- delins
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1555145859
rs1555145859
DHCR7
1.000 0.080 11 71437823 frameshift variant A/- delins
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1555145862
rs1555145862
DHCR7
1.000 0.080 11 71437836 stop gained C/T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1555145867
rs1555145867
DHCR7
1.000 0.080 11 71437860 stop gained G/C snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1555145874
rs1555145874
DHCR7
1.000 0.080 11 71437901 frameshift variant G/- delins
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1555145877
rs1555145877
DHCR7
1.000 0.080 11 71437917 stop gained C/T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0