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: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2010 2019
dbSNP: rs137853315
rs137853315
3 0.882 0.200 X 154368081 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1445335859
rs1445335859
5 0.851 0.240 X 15331662 missense variant T/C snv 9.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs2274567
rs2274567
CR1
10 0.776 0.400 1 207580276 missense variant A/G snv 0.25 0.21 0.010 1.000 1 2018 2018
dbSNP: rs34422225
rs34422225
2 0.925 0.040 X 15331876 missense variant G/A snv 3.0E-02 3.1E-02 0.010 1.000 1 1996 1996
dbSNP: rs368927897
rs368927897
9 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2018 2018
dbSNP: rs397514767
rs397514767
7 0.807 0.240 11 33710247 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs782549964
rs782549964
1 1.000 0.040 X 154353704 missense variant C/T snv 4.5E-05 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs495828
rs495828
24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.010 1.000 1 2017 2017