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: rs949177
rs949177
DHCR7
1.000 0.080 11 71441415 missense variant A/C;G;T snv 8.0E-06; 0.87
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
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: 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: rs80338858
rs80338858
DHCR7
1.000 0.080 11 71437869 missense variant G/A;C snv 1.2E-04; 2.0E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 5 2000 2012
dbSNP: rs398123607
rs398123607
DHCR7
1.000 0.080 11 71437934 missense variant C/T snv 1.0E-04 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 5 2000 2016
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: rs142808899
rs142808899
DHCR7
1.000 0.080 11 71437868 missense variant C/A;T snv 1.2E-05; 9.2E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.710 1.000 3 2005 2017
dbSNP: rs777425801
rs777425801
DHCR7
1.000 0.080 11 71441413 missense variant C/T snv 8.8E-05 9.1E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 5 1998 2015
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: 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: rs200334114
rs200334114
DHCR7
1.000 0.080 11 71444864 missense variant C/G;T snv 6.4E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 3 2007 2012
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: rs746482788
rs746482788
DHCR7
1.000 0.080 11 71442258 splice donor variant TACCTGCAGGAGTCACGGCCCCCTCCTGGATGC/- delins 4.4E-05 2.1E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 3 1998 2005
dbSNP: rs753960624
rs753960624
DHCR7
1.000 0.080 11 71441383 missense variant A/G snv 4.4E-05 1.4E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 1 2004 2013
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: 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: 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: 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: rs121909764
rs121909764
DHCR7
1.000 0.080 11 71438980 missense variant C/T snv 3.2E-05 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 0 1998 2015
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: 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: rs766495775
rs766495775
DHCR7
1.000 0.080 11 71437914 missense variant G/A;T snv 2.0E-05; 1.2E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 4 2000 2013
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: rs750345068
rs750345068
DHCR7
1.000 0.080 11 71444203 stop gained C/A;T snv 1.9E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 2 2000 2006