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: rs104893750
rs104893750
3 0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 4 2002 2017
dbSNP: rs199474703
rs199474703
5 0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104893748
rs104893748
2 0.925 0.080 3 46859511 missense variant T/C snv 0.700 0
dbSNP: rs730880162
rs730880162
1 1.000 0.080 3 46859509 missense variant C/A;T snv 0.700 0
dbSNP: rs869025485
rs869025485
1 1.000 0.080 3 46859573 missense variant C/T snv 0.700 0