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: rs140511594
rs140511594
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.800 1.000 3 2011 2017
dbSNP: rs376308209
rs376308209
1 1.000 2 165883922 missense variant T/C snv 3.2E-05 4.2E-05 0.700 1.000 2 2011 2012
dbSNP: rs746700857
rs746700857
1 1.000 2 165901880 missense variant G/A;T snv 4.0E-06 1.4E-05 0.700 1.000 2 2011 2012
dbSNP: rs777427926
rs777427926
1 1.000 2 165890907 missense variant A/G snv 1.2E-05 0.700 1.000 2 2011 2012
dbSNP: rs146320075
rs146320075
1 1.000 2 165917459 missense variant T/C snv 5.9E-04 6.2E-04 0.700 1.000 1 2011 2011
dbSNP: rs1040877016
rs1040877016
1 1.000 2 165883978 missense variant T/C snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs149925563
rs149925563
2 0.925 2 165941046 missense variant T/A snv 1.1E-03 7.0E-04 0.700 0
dbSNP: rs387907059
rs387907059
1 1.000 2 165919294 stop gained A/T snv 0.700 0
dbSNP: rs766132877
rs766132877
2 0.925 0.080 2 165899882 splice acceptor variant T/C snv 2.0E-05 2.8E-05 0.700 0