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: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2018 2018
dbSNP: rs1800566
rs1800566
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2018 2018
dbSNP: rs7292
rs7292
MB
1 1.000 22 35610998 synonymous variant G/A;T snv 0.51; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs7293
rs7293
MB
1 1.000 22 35611028 synonymous variant C/T snv 0.50 0.47 0.010 1.000 1 2018 2018
dbSNP: rs9852810
rs9852810
3 0.882 0.080 3 37027478 intron variant G/A snv 0.35 0.010 1.000 1 2018 2018