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: 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: rs1553616235
rs1553616235
CYP27A1
1 1.000 0.080 2 218812314 frameshift variant A/- del 0.700 0
dbSNP: rs1553616253
rs1553616253
CYP27A1
1 1.000 0.080 2 218812423 splice donor variant T/C snv 0.700 0
dbSNP: rs1553616312
rs1553616312
CYP27A1
1 1.000 0.080 2 218812922 splice acceptor variant A/G snv 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: rs1553616478
rs1553616478
CYP27A1
1 1.000 0.080 2 218814543 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1553616508
rs1553616508
CYP27A1
1 1.000 0.080 2 218814708 frameshift variant G/- del 0.700 0
dbSNP: rs1559392331
rs1559392331
CYP27A1
1 1.000 0.080 2 218812281 frameshift variant CG/A delins 0.700 0
dbSNP: rs200553205
rs200553205
CYP27A1
1 1.000 0.080 2 218813096 splice region variant G/A;C;T snv 9.3E-05 0.700 0
dbSNP: rs200883871
rs200883871
CYP27A1
1 1.000 0.080 2 218814696 missense variant G/C snv 1.1E-04 7.0E-06 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: rs587778778
rs587778778
CYP27A1
1 1.000 0.080 2 218814187 missense variant G/A snv 2.8E-05 1.0E-04 0.700 0
dbSNP: rs587778779
rs587778779
CYP27A1
14 0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs587778780
rs587778780
CYP27A1
1 1.000 0.080 2 218814397 missense variant C/G snv 0.700 0
dbSNP: rs587778782
rs587778782
CYP27A1
1 1.000 0.080 2 218814417 stop gained G/T snv 0.700 0
dbSNP: rs587778783
rs587778783
CYP27A1
1 1.000 0.080 2 218814433 missense variant T/A;C;G snv 0.700 0
dbSNP: rs587778784
rs587778784
CYP27A1
1 1.000 0.080 2 218814463 splice region variant G/A;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs587778785
rs587778785
CYP27A1
1 1.000 0.080 2 218814544 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs587778787
rs587778787
CYP27A1
1 1.000 0.080 2 218814683 missense variant C/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: 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