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: 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
dbSNP: rs1555146023
rs1555146023
DHCR7
1.000 0.080 11 71438907 frameshift variant T/- delins
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs1555146618
rs1555146618
DHCR7
1.000 0.080 11 71442355 splice acceptor variant T/C snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs786200926
rs786200926
DHCR7
1.000 0.080 11 71442260 splice region variant T/A snv 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs80338863
rs80338863
DHCR7
1.000 0.080 11 71437944 splice acceptor variant C/G 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: rs121909767
rs121909767
DHCR7
1.000 0.080 11 71444950 start lost C/T snv 4.0E-06 2.8E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 9 1998 2012
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: rs769639753
rs769639753
DHCR7
1.000 0.080 11 71437881 stop gained G/A;T snv 4.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs28938174
rs28938174
DHCR7
1.000 0.080 11 71442319 missense variant T/A;C snv 4.0E-06; 6.8E-05; 4.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 0 2013 2013
dbSNP: rs80338855
rs80338855
DHCR7
1.000 0.080 11 71441347 missense variant G/A;C snv 4.8E-05; 4.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 6 1998 2015
dbSNP: rs143312232
rs143312232
DHCR7
1.000 0.080 11 71441392 missense variant G/A;C snv 4.0E-06; 9.6E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 16 1998 2017
dbSNP: rs104886041
rs104886041
DHCR7
1.000 0.080 11 71444018 missense variant A/G snv 4.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 3 1998 2015
dbSNP: rs121909768
rs121909768
DHCR7
1.000 0.080 11 71435748 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.810 1.000 5 1998 2015
dbSNP: rs759720450
rs759720450
DHCR7
1.000 0.080 11 71435746 frameshift variant C/- delins 4.0E-06 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 4 2000 2012
dbSNP: rs781687341
rs781687341
DHCR7
1.000 0.080 11 71435475 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 8.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs779709646
rs779709646
DHCR7
1.000 0.080 11 71435664 missense variant C/A;T snv 1.6E-05; 4.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 6 2000 2013
dbSNP: rs1046560765
rs1046560765
DHCR7
1.000 0.080 11 71435581 missense variant A/G snv 4.1E-06 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 6 2000 2013
dbSNP: rs61757582
rs61757582
DHCR7
1.000 0.080 11 71435593 missense variant G/A;C;T snv 3.7E-05; 4.1E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.810 1.000 6 1998 2015
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: rs1173707321
rs1173707321
DHCR7
1.000 0.080 11 71435833 missense variant A/G snv 4.3E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 0 2013 2013
dbSNP: rs756564881
rs756564881
DHCR7
1.000 0.080 11 71444871 stop gained G/A snv 8.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs779896782
rs779896782
DHCR7
0.882 0.160 11 71439055 missense variant A/C;G snv 8.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs749076525
rs749076525
DHCR7
1.000 0.080 11 71439059 stop gained G/T snv 8.0E-06 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 2 2000 2012