Gene: CYP27A1 ×
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: 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: rs397515356
rs397515356
CYP27A1
1 1.000 0.080 2 218813022 frameshift variant TGGCC/- delins 0.700 1.000 1 2002 2002
dbSNP: rs41272687
rs41272687
CYP27A1
1 1.000 0.080 2 218814154 missense variant C/T snv 1.9E-02 1.5E-02 0.010 1.000 1 2015 2015
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: rs587778812
rs587778812
CYP27A1
1 1.000 0.080 2 218812724 frameshift variant T/- del 4.0E-06; 4.0E-06 0.700 1.000 1 1993 1993
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: rs886041342
rs886041342
CYP27A1
1 1.000 0.080 2 218782184 frameshift variant -/TGGGCTGCGC delins 0.700 1.000 1 2006 2006
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: 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