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: rs1569008655
rs1569008655
1 21 34799310 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1569061762
rs1569061762
1 21 34859476 missense variant C/T snv 0.700 0
dbSNP: rs1569061768
rs1569061768
2 1.000 0.120 21 34859477 stop gained G/A snv 0.700 0
dbSNP: rs74315450
rs74315450
5 0.851 0.120 21 34859485 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs74315451
rs74315451
2 1.000 0.120 21 34880665 missense variant C/G snv 0.010 1.000 1 2002 2002