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: rs5030776
rs5030776
2 0.925 0.120 11 30233615 missense variant T/G snv 0.800 0
dbSNP: rs5030646
rs5030646
1 1.000 0.040 11 30233645 frameshift variant TG/- delins 0.700 1.000 4 1993 1998
dbSNP: rs374623109
rs374623109
2 1.000 0.040 11 30233753 stop gained C/A;T snv 1.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs121909666
rs121909666
1 1.000 0.040 11 30233692 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs5030777
rs5030777
1 1.000 0.040 11 30233708 missense variant T/C snv 0.700 0