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: rs138659167
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 21 1998 2015
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: 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: rs11555217
rs11555217
DHCR7
0.882 0.160 11 71441401 stop gained C/G;T snv 7.7E-04
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.750 1.000 13 1998 2012
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: 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: rs80338856
rs80338856
DHCR7
1.000 0.080 11 71438986 missense variant G/A snv 9.9E-05 1.2E-04
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 17 1998 2016
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: rs80338862
rs80338862
DHCR7
1.000 0.080 11 71435575 missense variant C/G;T snv 7.3E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 13 1998 2015
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: rs751604696
rs751604696
DHCR7
1.000 0.080 11 71435466 missense variant C/T snv 1.2E-05; 2.4E-05 2.1E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 9 1998 2017
dbSNP: rs80338853
rs80338853
DHCR7
1.000 0.080 11 71444036 missense variant G/A snv 4.0E-05 9.1E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.840 1.000 8 1998 2015
dbSNP: rs104886035
rs104886035
DHCR7
1.000 0.080 11 71444163 missense variant G/A snv 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 7 1998 2015
dbSNP: rs121912195
rs121912195
DHCR7
1.000 0.080 11 71442349 missense variant A/G snv 1.4E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 7 1998 2015
dbSNP: rs373306653
rs373306653
DHCR7
1.000 0.080 11 71435665 missense variant A/G snv 1.2E-05 1.4E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 7 1998 2015
dbSNP: rs80338857
rs80338857
DHCR7
1.000 0.080 11 71438985 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 7 1998 2015
dbSNP: rs80338860
rs80338860
DHCR7
1.000 0.080 11 71435749 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.810 1.000 7 1998 2015
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: rs104886039
rs104886039
DHCR7
1.000 0.080 11 71444022 stop gained G/A snv 3.6E-05 1.4E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 6 2005 2017
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: 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: 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: rs80338859
rs80338859
DHCR7
1.000 0.080 11 71435827 missense variant C/A snv 1.7E-05 4.9E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.850 1.000 6 1998 2017
dbSNP: rs80338864
rs80338864
DHCR7
1.000 0.080 11 71435461 missense variant C/G;T snv 1.2E-05; 3.6E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 6 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