Source: ALL
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: rs1559391480
rs1559391480
CYP27A1
1 1.000 0.080 2 218809719 stop gained G/A snv 0.700 1.000 3 2001 2011
dbSNP: rs72551318
rs72551318
CYP27A1
1 1.000 0.080 2 218812713 stop gained C/G;T snv 1.2E-05; 2.0E-05 0.700 1.000 2 2013 2016
dbSNP: rs374507635
rs374507635
CYP27A1
1 1.000 0.080 2 218815007 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs533885672
rs533885672
CYP27A1
1 1.000 0.080 2 218814075 stop gained C/T snv 2.4E-05 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs72551316
rs72551316
CYP27A1
1 1.000 0.080 2 218812650 stop gained C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs72551319
rs72551319
CYP27A1
1 1.000 0.080 2 218812929 stop gained A/T snv 1.6E-05 2.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs1057519469
rs1057519469
CYP27A1
1 1.000 0.080 2 218812926 stop gained A/T snv 0.700 0
dbSNP: rs1160640803
rs1160640803
CYP27A1
1 1.000 0.080 2 218809720 stop gained G/A;C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1553614310
rs1553614310
CYP27A1
1 1.000 0.080 2 218782375 stop gained C/T snv 0.700 0
dbSNP: rs587778782
rs587778782
CYP27A1
1 1.000 0.080 2 218814417 stop gained G/T snv 0.700 0
dbSNP: rs587778800
rs587778800
CYP27A1
1 1.000 0.080 2 218812358 stop gained G/T snv 0.700 0
dbSNP: rs587778808
rs587778808
CYP27A1
1 1.000 0.080 2 218812657 stop gained C/A snv 0.700 0
dbSNP: rs587778810
rs587778810
CYP27A1
1 1.000 0.080 2 218812684 stop gained G/A snv 0.700 0
dbSNP: rs72551314
rs72551314
CYP27A1
1 1.000 0.080 2 218812250 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs72551315
rs72551315
CYP27A1
1 1.000 0.080 2 218812596 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs121908096
rs121908096
CYP27A1
10 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.830 1.000 19 1991 2016
dbSNP: rs121908099
rs121908099
CYP27A1
1 1.000 0.080 2 218814409 missense variant G/A snv 4.0E-05 7.0E-06 0.800 1.000 14 1991 2018
dbSNP: rs121908098
rs121908098
CYP27A1
1 1.000 0.080 2 218814701 missense variant C/T snv 2.4E-05 7.0E-06 0.810 1.000 13 1991 2012
dbSNP: rs72551322
rs72551322
CYP27A1
1 1.000 0.080 2 218814716 missense variant C/A;G;T snv 1.6E-05; 1.2E-05; 4.4E-05 0.810 1.000 11 1991 2016
dbSNP: rs121908102
rs121908102
CYP27A1
1 1.000 0.080 2 218813095 missense variant C/T snv 8.1E-05; 4.0E-06 1.1E-04 0.700 1.000 9 1994 2016
dbSNP: rs201114717
rs201114717
CYP27A1
1 1.000 0.080 2 218809700 missense variant C/G;T snv 4.0E-06; 6.8E-05 0.700 1.000 9 1996 2017
dbSNP: rs376230356
rs376230356
CYP27A1
1 1.000 0.080 2 218809701 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 9 1996 2017
dbSNP: rs121908097
rs121908097
CYP27A1
1 1.000 0.080 2 218814702 missense variant G/A snv 1.6E-05 2.8E-05 0.810 1.000 6 1991 2002
dbSNP: rs573951598
rs573951598
CYP27A1
3 0.882 0.200 2 218814408 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 6 2000 2012
dbSNP: rs587778818
rs587778818
CYP27A1
1 1.000 0.080 2 218809731 missense variant G/A snv 3.6E-05 4.2E-05 0.700 1.000 5 1994 2018