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: rs587778802
rs587778802
CYP27A1
1 1.000 0.080 2 218782186 frameshift variant -/C delins 0.700 0
dbSNP: rs886041342
rs886041342
CYP27A1
1 1.000 0.080 2 218782184 frameshift variant -/TGGGCTGCGC delins 0.700 1.000 1 2006 2006
dbSNP: rs1553616235
rs1553616235
CYP27A1
1 1.000 0.080 2 218812314 frameshift variant A/- del 0.700 0
dbSNP: rs587778815
rs587778815
CYP27A1
1 1.000 0.080 2 218812942 frameshift variant A/- del 0.700 0
dbSNP: rs1553616457
rs1553616457
CYP27A1
1 1.000 0.080 2 218814378 splice acceptor variant A/C;T snv 0.700 0
dbSNP: rs72551317
rs72551317
CYP27A1
1 1.000 0.080 2 218812681 missense variant A/G snv 1.6E-05 7.0E-06 0.700 1.000 4 2000 2013
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2005 2005
dbSNP: rs1553616312
rs1553616312
CYP27A1
1 1.000 0.080 2 218812922 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1553616478
rs1553616478
CYP27A1
1 1.000 0.080 2 218814543 splice acceptor variant A/G snv 0.700 0
dbSNP: rs72551320
rs72551320
CYP27A1
1 1.000 0.080 2 218814064 missense variant A/G snv 0.700 0
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: rs587778790
rs587778790
CYP27A1
1 1.000 0.080 2 218809625 frameshift variant C/- delins 0.700 0
dbSNP: rs587778793
rs587778793
CYP27A1
1 1.000 0.080 2 218809676 frameshift variant C/- del 0.700 0
dbSNP: rs587778808
rs587778808
CYP27A1
1 1.000 0.080 2 218812657 stop gained C/A snv 0.700 0
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: 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: rs72551312
rs72551312
CYP27A1
1 1.000 0.080 2 218809730 missense variant C/A;T snv 4.4E-05 0.700 1.000 3 2010 2018
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: rs587778780
rs587778780
CYP27A1
1 1.000 0.080 2 218814397 missense variant C/G snv 0.700 0
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: 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: 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: 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: 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