Gene: CYP27A1 ×
Source: UNIPROT ×
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: rs121908096
rs121908096
CYP27A1
1 0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04 0.830 1.000 5 1991 2016
dbSNP: rs121908097
rs121908097
CYP27A1
1 1.000 0.080 2 218814702 missense variant G/A snv 1.6E-05 2.8E-05 0.810 1.000 5 1991 2002
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 5 1991 2012
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 5 1991 2016
dbSNP: rs121908099
rs121908099
CYP27A1
1 1.000 0.080 2 218814409 missense variant G/A snv 4.0E-05 7.0E-06 0.800 1.000 5 1991 2018
dbSNP: rs72551313
rs72551313
CYP27A1
1 1.000 0.080 2 218809755 missense variant G/A snv 0.800 1.000 5 1991 2002