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: rs104893884
rs104893884
1 1.000 0.080 5 44305045 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs104893887
rs104893887
2 0.925 0.280 5 44310447 stop gained T/A snv 0.700 0
dbSNP: rs104893888
rs104893888
2 0.925 0.280 5 44388443 missense variant T/G snv 0.700 0
dbSNP: rs104893889
rs104893889
1 1.000 0.080 5 44310443 missense variant C/T snv 0.700 0