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: rs1057517641
rs1057517641
2 0.925 17 58692790 splice donor variant T/G snv 0.700 0
dbSNP: rs1060502605
rs1060502605
2 1.000 17 58720757 frameshift variant ATCA/-;ATCAATCA delins 0.700 0
dbSNP: rs1555591851
rs1555591851
1 1.000 17 58692691 frameshift variant T/- delins 0.700 0
dbSNP: rs1555593616
rs1555593616
2 1.000 17 58695035 stop gained A/T snv 0.700 0
dbSNP: rs1555593715
rs1555593715
1 1.000 17 58695097 stop gained T/A snv 0.700 0
dbSNP: rs1555594864
rs1555594864
1 1.000 17 58696823 frameshift variant C/- del 0.700 0
dbSNP: rs1555597094
rs1555597094
1 1.000 17 58703213 stop gained G/T snv 0.700 0
dbSNP: rs1555603011
rs1555603011
1 1.000 17 58724043 frameshift variant A/- delins 0.700 0
dbSNP: rs1567782755
rs1567782755
1 1.000 17 58692674 stop gained C/T snv 0.700 0
dbSNP: rs1567782936
rs1567782936
1 1.000 17 58692716 frameshift variant G/TTC delins 0.700 0
dbSNP: rs1567785872
rs1567785872
2 0.925 0.120 17 58694984 stop gained G/T snv 0.700 0
dbSNP: rs1567786509
rs1567786509
1 1.000 17 58695148 frameshift variant AGAAATTTG/C delins 0.700 0
dbSNP: rs1567799818
rs1567799818
2 1.000 17 58709955 stop gained C/T snv 0.700 0
dbSNP: rs1567799943
rs1567799943
3 0.925 0.200 17 58709992 splice donor variant T/C snv 0.700 0
dbSNP: rs1567817415
rs1567817415
2 0.925 0.200 17 58732517 frameshift variant G/- delins 0.700 0
dbSNP: rs201529791
rs201529791
2 0.925 0.200 17 58703280 missense variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs587782170
rs587782170
2 1.000 17 58694970 frameshift variant AA/- delins 0.700 0
dbSNP: rs587782818
rs587782818
8 0.790 0.160 17 58703325 stop gained C/G snv 6.4E-05; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs730881940
rs730881940
2 1.000 17 58695174 frameshift variant -/A delins 0.700 0
dbSNP: rs760235677
rs760235677
3 0.925 17 58709991 splice donor variant G/A;T snv 1.2E-05 0.700 0
dbSNP: rs786201909
rs786201909
2 1.000 17 58703254 stop gained T/G snv 0.700 0
dbSNP: rs876658652
rs876658652
2 1.000 17 58724038 splice acceptor variant A/- del 7.0E-06 0.700 0
dbSNP: rs876659874
rs876659874
3 0.925 17 58724049 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs587781410
rs587781410
3 0.925 17 58732548 inframe deletion GTA/- delins 0.700 1.000 7 2003 2017
dbSNP: rs1555605074
rs1555605074
2 1.000 17 58732512 stop gained C/T snv 0.700 1.000 2 2003 2017