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: rs104893748
rs104893748
2 0.925 0.080 3 46859511 missense variant T/C snv 0.800 1.000 8 1996 2017
dbSNP: rs104893749
rs104893749
2 0.925 0.080 3 46859495 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.800 1.000 4 1996 2013
dbSNP: rs104893750
rs104893750
3 0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05 0.800 1.000 4 1996 2013
dbSNP: rs193922391
rs193922391
1 1.000 0.080 3 46858413 missense variant T/C snv 5.6E-05 2.8E-05 0.700 1.000 4 1996 2013
dbSNP: rs199474702
rs199474702
1 1.000 0.080 3 46860816 missense variant T/C snv 0.700 1.000 4 1996 2013
dbSNP: rs199474707
rs199474707
1 1.000 0.080 3 46859490 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 1.6E-05 0.700 1.000 4 2006 2017
dbSNP: rs139794067
rs139794067
3 0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04 0.700 0
dbSNP: rs199474703
rs199474703
5 0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06 0.700 0