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: rs121908388
rs121908388
4 0.925 0.120 16 50792627 stop gained C/T snv 0.700 0
dbSNP: rs121908390
rs121908390
8 0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs764952788
rs764952788
1 16 50779853 stop gained C/A;T snv 1.6E-05 0.700 0
dbSNP: rs886040868
rs886040868
1 16 50754339 frameshift variant TGGA/- delins 0.700 0
dbSNP: rs886040869
rs886040869
1 16 50754419 frameshift variant -/C delins 0.700 0
dbSNP: rs886040871
rs886040871
1 16 50776242 frameshift variant -/AG delins 0.700 0
dbSNP: rs886040872
rs886040872
2 16 50777915 stop gained C/A snv 4.0E-06 0.700 0
dbSNP: rs886040873
rs886040873
1 16 50779889 stop gained C/T snv 0.700 0
dbSNP: rs886040876
rs886040876
1 16 50781383 frameshift variant ATCA/- delins 0.700 0
dbSNP: rs886040879
rs886040879
1 16 50782411 stop gained A/T snv 0.700 0
dbSNP: rs886040882
rs886040882
1 16 50786852 splice acceptor variant AGATAT/- delins 0.700 0
dbSNP: rs886040886
rs886040886
1 16 50792595 splice acceptor variant A/G snv 0.700 0
dbSNP: rs886040887
rs886040887
1 16 50792644 frameshift variant AACTA/- delins 0.700 0
dbSNP: rs886040888
rs886040888
1 16 50792654 stop gained A/T snv 7.0E-06 0.700 0
dbSNP: rs886040890
rs886040890
1 16 50792706 splice donor variant G/T snv 0.700 0
dbSNP: rs886040891
rs886040891
1 16 50793584 frameshift variant AT/- delins 0.700 0
dbSNP: rs886040892
rs886040892
1 16 50793601 stop gained CT/- del 0.700 0
dbSNP: rs886040893
rs886040893
1 16 50794257 frameshift variant T/- del 0.700 0
dbSNP: rs886040894
rs886040894
1 16 50794311 stop gained C/T snv 0.700 0