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: rs121912679
rs121912679
4 1.000 0.040 2 157761077 missense variant C/T snv 0.840 0.857 7 2006 2014
dbSNP: rs387906588
rs387906588
1 1.000 0.040 2 157766005 missense variant C/A;T snv 0.800 1.000 3 2006 2009
dbSNP: rs387906590
rs387906590
1 1.000 0.040 2 157761020 missense variant C/G snv 0.800 1.000 3 2006 2009
dbSNP: rs387906591
rs387906591
1 1.000 0.040 2 157774126 missense variant C/A snv 0.800 1.000 3 2006 2009
dbSNP: rs797045135
rs797045135
1 1.000 0.040 2 157774144 missense variant A/G snv 0.720 1.000 2 2011 2014
dbSNP: rs1064796674
rs1064796674
1 1.000 0.040 2 157760946 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1164715949
rs1164715949
1 1.000 0.040 4 145539990 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1300363461
rs1300363461
1 1.000 0.040 1 153645138 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs534215890
rs534215890
1 1.000 0.040 14 53950453 missense variant C/T snv 3.0E-04 9.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs763667205
rs763667205
1 1.000 0.040 2 157770421 missense variant A/T snv 8.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs777406477
rs777406477
1 1.000 0.040 14 53950783 missense variant C/T snv 4.8E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121912680
rs121912680
1 1.000 0.040 2 157770384 missense variant C/G;T snv 3.6E-05 0.700 0
dbSNP: rs121912678
rs121912678
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.900 1.000 39 2006 2020
dbSNP: rs199566527
rs199566527
NOG
3 0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03 0.010 1.000 1 2012 2012
dbSNP: rs387906589
rs387906589
3 0.925 0.120 2 157766004 missense variant C/A;T snv 0.820 1.000 5 2006 2012
dbSNP: rs863224846
rs863224846
3 0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06 0.710 < 0.001 1 2015 2015
dbSNP: rs1146031
rs1146031
2 0.925 0.200 2 157770468 synonymous variant C/T snv 0.97 0.92 0.010 1.000 1 2018 2018