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: 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: 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: 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: rs774187452
rs774187452
DHCR7
1.000 0.080 11 71437905 stop gained C/T snv 8.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs774291653
rs774291653
DHCR7
1.000 0.080 11 71435737 frameshift variant G/- delins 1.6E-05 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 0
dbSNP: rs775575609
rs775575609
DHCR7
1.000 0.080 11 71441442 splice acceptor variant T/C snv 8.3E-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: 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: 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: 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: 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: rs565893436
rs565893436
DHCR7
1.000 0.080 11 71437913 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.710 1.000 2 2001 2005
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
dbSNP: rs104894213
rs104894213
DHCR7
1.000 0.080 11 71441400 stop gained C/T snv
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.750 1.000 0 2000 2010
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: 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: 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: 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: rs773134475
rs773134475
DHCR7
1.000 0.080 11 71435613 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.800 1.000 4 2000 2012
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: rs775034584
rs775034584
DHCR7
1.000 0.080 11 71435377 stop lost A/G;T snv 1.6E-05
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome 		0.700 1.000 3 1999 2012
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
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