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: rs34833812
rs34833812
1 1.000 0.160 3 30672127 missense variant C/T snv 1.1E-03 3.4E-04 0.800 1.000 1 1998 1998
dbSNP: rs104893815
rs104893815
4 0.851 0.240 3 30691478 missense variant G/A snv 0.700 0
dbSNP: rs104893819
rs104893819
5 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 0
dbSNP: rs587776769
rs587776769
1 1.000 0.160 3 30691490 frameshift variant -/TG delins 0.700 0