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: rs4148323
rs4148323
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.100 1.000 10 2007 2019
dbSNP: rs1042640
rs1042640
3 1.000 0.080 2 233772898 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10929303
rs10929303
3 1.000 0.080 2 233772770 3 prime UTR variant T/C snv 0.74 0.010 1.000 1 2018 2018
dbSNP: rs368362776
rs368362776
3 0.882 0.120 2 233693633 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs774010631
rs774010631
5 0.827 0.160 2 233719115 missense variant G/C snv 2.4E-05 2.1E-05 0.010 1.000 1 2011 2011