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: rs104893744
rs104893744
1 1.000 0.040 3 69959310 missense variant T/C snv 0.800 1.000 2 1995 2017
dbSNP: rs104893747
rs104893747
1 1.000 0.040 3 69964880 missense variant T/C snv 2.4E-05 3.5E-05 0.800 1.000 2 1995 2017
dbSNP: rs149617956
rs149617956
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.700 1.000 5 2011 2016
dbSNP: rs1057517966
rs1057517966
3 0.925 0.160 3 69959325 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1553702006
rs1553702006
1 1.000 0.040 3 69939164 stop gained C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1555937398
rs1555937398
1 1.000 0.040 22 37973805 frameshift variant T/- del 0.700 1.000 1 2018 2018
dbSNP: rs1555938422
rs1555938422
1 1.000 0.040 22 37978134 frameshift variant G/- del 0.700 1.000 1 2018 2018
dbSNP: rs1555939415
rs1555939415
1 1.000 0.040 22 37983382 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1555939564
rs1555939564
1 1.000 0.040 22 37983723 frameshift variant CTCCGAGCCCACGGGGCTC/- delins 0.700 1.000 1 2018 2018
dbSNP: rs104893746
rs104893746
6 0.851 0.120 3 69956460 stop gained C/T snv 0.700 0
dbSNP: rs1057519325
rs1057519325
2 0.925 0.040 3 69951870 missense variant G/C snv 0.700 0
dbSNP: rs1057519326
rs1057519326
2 0.925 0.040 3 69956469 missense variant A/G snv 0.700 0
dbSNP: rs1057519327
rs1057519327
2 0.925 0.040 3 69956454 splice acceptor variant G/A snv 0.700 0
dbSNP: rs147682682
rs147682682
4 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1553701477
rs1553701477
1 1.000 0.040 3 69936756 splice donor variant G/A snv 0.700 0
dbSNP: rs1553702406
rs1553702406
1 1.000 0.040 3 69941299 missense variant TT/CC mnv 0.700 0
dbSNP: rs1553703612
rs1553703612
1 1.000 0.040 3 69949049 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1553704086
rs1553704086
2 0.925 0.280 3 69951856 missense variant G/A snv 0.700 0
dbSNP: rs1553704097
rs1553704097
1 1.000 0.040 3 69951884 missense variant T/C snv 0.700 0
dbSNP: rs1553704850
rs1553704850
1 1.000 0.040 3 69956534 splice region variant A/C snv 0.700 0
dbSNP: rs1553705282
rs1553705282
1 1.000 0.040 3 69959386 frameshift variant A/- del 0.700 0
dbSNP: rs1559749017
rs1559749017
4 0.925 0.040 3 69956531 splice donor variant G/A snv 0.700 0
dbSNP: rs1559751245
rs1559751245
6 0.882 0.280 3 69959280 missense variant C/G snv 0.700 0
dbSNP: rs878853234
rs878853234
1 1.000 0.040 3 69964874 frameshift variant G/- delins 0.700 0
dbSNP: rs767012978
rs767012978
1 1.000 0.040 3 69959416 missense variant T/G snv 8.0E-06 0.010 1.000 1 2012 2012