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: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.040 1.000 4 1997 2012
dbSNP: rs1318358361
rs1318358361
13 0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 0.030 1.000 3 2001 2012
dbSNP: rs374608214
rs374608214
13 0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06 0.030 1.000 3 2001 2012
dbSNP: rs1211950654
rs1211950654
1 1.000 0.080 2 72132463 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs148662051
rs148662051
1 1.000 0.080 15 98899591 missense variant G/A;T snv 3.2E-05; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1554571213
rs1554571213
2 0.925 0.080 8 96144601 missense variant A/T snv 0.010 1.000 1 2016 2016
dbSNP: rs28931608
rs28931608
POR
3 0.882 0.120 7 75985179 missense variant G/A;C snv 5.2E-05 0.010 1.000 1 2018 2018