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: rs1057519815
rs1057519815
1 1.000 0.040 3 12599696 missense variant C/G snv 0.700 1.000 1 2013 2013
dbSNP: rs727505017
rs727505017
3 0.882 0.200 3 12604201 missense variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs368807126
rs368807126
1 1.000 0.040 3 12591730 missense variant T/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs750697353
rs750697353
4 0.882 0.080 3 12608919 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs765857063
rs765857063
2 1.000 0.040 3 12618634 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014