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: rs104894031
rs104894031
1 1.000 0.120 7 128775556 missense variant C/T snv 3.3E-04 1.7E-04 0.800 1.000 3 1992 2012
dbSNP: rs104894032
rs104894032
1 1.000 0.120 7 128774545 missense variant A/C;G snv 3.2E-05; 1.2E-05 0.800 1.000 3 1992 2012
dbSNP: rs104894033
rs104894033
3 0.925 0.120 7 128773786 missense variant G/A snv 3.2E-05 3.5E-05 0.800 1.000 3 1992 2012
dbSNP: rs1190183515
rs1190183515
1 1.000 0.120 7 128774616 missense variant G/A snv 0.700 0