Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555146475
rs1555146475
DHCR7
1 1.000 0.080 11 71441420 missense variant T/G snv 0.700 1.000 10 1998 2015
dbSNP: rs542266962
rs542266962
DHCR7
1 1.000 0.080 11 71435454 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 10 1998 2015
dbSNP: rs104886038
rs104886038
DHCR7
1 1.000 0.080 11 71444111 missense variant A/G snv 0.700 1.000 9 1998 2015
dbSNP: rs104886040
rs104886040
DHCR7
1 1.000 0.080 11 71443993 missense variant C/G snv 1.2E-05 2.1E-05 0.710 1.000 9 1998 2015
dbSNP: rs121909767
rs121909767
DHCR7
1 1.000 0.080 11 71444950 start lost C/T snv 4.0E-06 2.8E-05 0.700 1.000 9 1998 2012
dbSNP: rs536394774
rs536394774
DHCR7
1 1.000 0.080 11 71441308 stop gained C/A;T snv 4.0E-05 0.700 1.000 9 1998 2015
dbSNP: rs1046560765
rs1046560765
DHCR7
1 1.000 0.080 11 71435581 missense variant A/G snv 4.1E-06 7.0E-06 0.800 1.000 7 2000 2013
dbSNP: rs104886033
rs104886033
DHCR7
10 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 1.000 7 1998 2014
dbSNP: rs779709646
rs779709646
DHCR7
1 1.000 0.080 11 71435664 missense variant C/A;T snv 1.6E-05; 4.0E-06 0.800 1.000 7 2000 2013
dbSNP: rs104886039
rs104886039
DHCR7
1 1.000 0.080 11 71444022 stop gained G/A snv 3.6E-05 1.4E-05 0.700 1.000 6 2005 2017
dbSNP: rs398123607
rs398123607
DHCR7
1 1.000 0.080 11 71437934 missense variant C/T snv 1.0E-04 7.0E-06 0.800 1.000 5 2000 2016
dbSNP: rs80338858
rs80338858
DHCR7
1 1.000 0.080 11 71437869 missense variant G/A;C snv 1.2E-04; 2.0E-05 0.700 1.000 5 2000 2012
dbSNP: rs886041354
rs886041354
DHCR7
1 1.000 0.080 11 71438970 missense variant G/A snv 0.800 1.000 5 1998 2013
dbSNP: rs759720450
rs759720450
DHCR7
1 1.000 0.080 11 71435746 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 1.000 4 2000 2012
dbSNP: rs766495775
rs766495775
DHCR7
1 1.000 0.080 11 71437914 missense variant G/A;T snv 2.0E-05; 1.2E-05 0.700 1.000 4 2000 2013
dbSNP: rs773134475
rs773134475
DHCR7
1 1.000 0.080 11 71435613 missense variant G/A snv 1.2E-05 7.0E-06 0.800 1.000 4 2000 2012
dbSNP: rs142808899
rs142808899
DHCR7
1 1.000 0.080 11 71437868 missense variant C/A;T snv 1.2E-05; 9.2E-05 0.710 1.000 3 2005 2017
dbSNP: rs200334114
rs200334114
DHCR7
1 1.000 0.080 11 71444864 missense variant C/G;T snv 6.4E-05 0.700 1.000 3 2007 2012
dbSNP: rs201270451
rs201270451
DHCR7
1 1.000 0.080 11 71435419 missense variant A/G snv 0.700 1.000 3 2000 2014
dbSNP: rs746482788
rs746482788
DHCR7
1 1.000 0.080 11 71442258 splice donor variant TACCTGCAGGAGTCACGGCCCCCTCCTGGATGC/- delins 4.4E-05 2.1E-05 0.700 1.000 3 1998 2005
dbSNP: rs760428437
rs760428437
DHCR7
1 1.000 0.080 11 71435407 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 3 2006 2014
dbSNP: rs775034584
rs775034584
DHCR7
1 1.000 0.080 11 71435377 stop lost A/G;T snv 1.6E-05 0.700 1.000 3 1999 2012
dbSNP: rs565893436
rs565893436
DHCR7
1 1.000 0.080 11 71437913 missense variant C/T snv 1.6E-05 2.8E-05 0.710 1.000 2 2001 2005
dbSNP: rs749076525
rs749076525
DHCR7
1 1.000 0.080 11 71439059 stop gained G/T snv 8.0E-06 7.0E-06 0.700 1.000 2 2000 2012
dbSNP: rs750345068
rs750345068
DHCR7
1 1.000 0.080 11 71444203 stop gained C/A;T snv 1.9E-05 0.700 1.000 2 2000 2006