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: rs370011798
rs370011798
1 1.000 3 3146489 missense variant T/C snv 3.2E-05 7.7E-05 0.810 1.000 2 2014 2018
dbSNP: rs606231287
rs606231287
1 1.000 3 3144671 missense variant G/C;T snv 4.2E-06 0.810 1.000 1 2018 2018
dbSNP: rs606231289
rs606231289
1 1.000 3 3144599 missense variant T/C snv 4.2E-06 0.810 1.000 1 2018 2018
dbSNP: rs606231290
rs606231290
1 1.000 3 3140628 missense variant C/T snv 7.0E-06 0.810 1.000 1 2018 2018
dbSNP: rs199931785
rs199931785
1 1.000 3 3148095 missense variant A/G snv 5.6E-05 3.5E-05 0.700 1.000 1 2014 2014
dbSNP: rs606231291
rs606231291
1 1.000 3 3147991 stop gained -/ATGT ins 0.700 0
dbSNP: rs771781629
rs771781629
1 1.000 3 3140639 missense variant A/C;G;T snv 4.0E-06; 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs876661298
rs876661298
2 0.925 3 3148095 frameshift variant A/-;AA delins 0.700 0