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: rs886041342
rs886041342
CYP27A1
1 1.000 0.080 2 218782184 frameshift variant -/TGGGCTGCGC delins 0.700 1.000 1 2006 2006
dbSNP: rs587778802
rs587778802
CYP27A1
1 1.000 0.080 2 218782186 frameshift variant -/C delins 0.700 0
dbSNP: rs587778807
rs587778807
CYP27A1
1 1.000 0.080 2 218782252 frameshift variant G/- delins 0.700 0
dbSNP: rs1553614310
rs1553614310
CYP27A1
1 1.000 0.080 2 218782375 stop gained C/T snv 0.700 0
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: 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: rs587778794
rs587778794
CYP27A1
1 1.000 0.080 2 218809689 frameshift variant CCAGTAC/- delins 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: 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: rs1559391480
rs1559391480
CYP27A1
1 1.000 0.080 2 218809719 stop gained G/A snv 0.700 1.000 3 2001 2011
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: 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: 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
dbSNP: rs587778795
rs587778795
CYP27A1
1 1.000 0.080 2 218809754 missense variant G/A snv 0.700 0
dbSNP: rs72551313
rs72551313
CYP27A1
1 1.000 0.080 2 218809755 missense variant G/A snv 0.800 1.000 5 1991 2002
dbSNP: rs587778796
rs587778796
CYP27A1
1 1.000 0.080 2 218809756 synonymous variant G/A;T snv 4.0E-06; 2.4E-05 0.700 1.000 2 1998 2018
dbSNP: rs587778797
rs587778797
CYP27A1
1 1.000 0.080 2 218809768 splice donor variant G/A;T snv 4.0E-06 0.700 1.000 3 2000 2015
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: rs1559392331
rs1559392331
CYP27A1
1 1.000 0.080 2 218812281 frameshift variant CG/A delins 0.700 0
dbSNP: rs765512351
rs765512351
CYP27A1
1 1.000 0.080 2 218812300 frameshift variant G/- delins 0.700 1.000 4 1996 2015
dbSNP: rs1553616235
rs1553616235
CYP27A1
1 1.000 0.080 2 218812314 frameshift variant A/- del 0.700 0
dbSNP: rs587778800
rs587778800
CYP27A1
1 1.000 0.080 2 218812358 stop gained G/T snv 0.700 0
dbSNP: rs201346271
rs201346271
CYP27A1
1 1.000 0.080 2 218812421 missense variant G/C snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs79535262
rs79535262
CYP27A1
1 1.000 0.080 2 218812422 splice donor variant G/C snv 0.700 0