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: rs587778793
rs587778793
CYP27A1
1 1.000 0.080 2 218809676 frameshift variant C/- del 0.700 0
dbSNP: rs587778794
rs587778794
CYP27A1
1 1.000 0.080 2 218809689 frameshift variant CCAGTAC/- delins 0.700 0
dbSNP: rs587778795
rs587778795
CYP27A1
1 1.000 0.080 2 218809754 missense variant G/A snv 0.700 0
dbSNP: rs587778800
rs587778800
CYP27A1
1 1.000 0.080 2 218812358 stop gained G/T snv 0.700 0
dbSNP: rs587778802
rs587778802
CYP27A1
1 1.000 0.080 2 218782186 frameshift variant -/C delins 0.700 0
dbSNP: rs587778804
rs587778804
CYP27A1
1 1.000 0.080 2 218812551 splice acceptor variant G/T snv 0.700 0
dbSNP: rs587778807
rs587778807
CYP27A1
1 1.000 0.080 2 218782252 frameshift variant G/- delins 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: rs587778815
rs587778815
CYP27A1
1 1.000 0.080 2 218812942 frameshift variant A/- del 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: rs72551320
rs72551320
CYP27A1
1 1.000 0.080 2 218814064 missense variant A/G snv 0.700 0
dbSNP: rs755532803
rs755532803
CYP27A1
1 1.000 0.080 2 218812569 frameshift variant CGAGAAACGCATT/- delins 8.0E-06 2.1E-05 0.700 0
dbSNP: rs777935791
rs777935791
CYP27A1
1 1.000 0.080 2 218814460 splice donor variant T/C snv 8.0E-06 0.700 0
dbSNP: rs79535262
rs79535262
CYP27A1
1 1.000 0.080 2 218812422 splice donor variant G/C snv 0.700 0
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: rs587778779
rs587778779
CYP27A1
14 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 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: rs886556800
rs886556800
CYP27A1
10 0.827 0.320 2 218809576 splice acceptor variant G/T snv 0.700 1.000 1 2015 2015
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