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: rs979212552
rs979212552
2 2 47416395 stop gained C/G;T snv 0.700 0
dbSNP: rs879253899
rs879253899
1 2 47416361 frameshift variant T/- del 0.700 0
dbSNP: rs878853824
rs878853824
3 2 47412558 stop gained C/T snv 0.700 1.000 1 2000 2000
dbSNP: rs878853815
rs878853815
2 1.000 0.160 2 47408529 stop gained G/T snv 0.700 0
dbSNP: rs878853809
rs878853809
1 2 47476509 frameshift variant GTCA/- delins 0.700 0
dbSNP: rs878853802
rs878853802
1 2 47463048 frameshift variant CCTTGTA/- del 0.700 0
dbSNP: rs876658996
rs876658996
3 1.000 0.160 2 47410374 splice donor variant T/C;G snv 0.700 1.000 2 2005 2014
dbSNP: rs876658918
rs876658918
2 2 47445614 frameshift variant C/- delins 0.700 0
dbSNP: rs876657701
rs876657701
3 1.000 0.160 2 47445655 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs864622436
rs864622436
1 2 47470953 splice acceptor variant TTCGATTTGCAGCAAATTGACTTCTTTA/- del 0.700 0
dbSNP: rs864622340
rs864622340
2 2 47416375 frameshift variant T/- delins 0.700 0
dbSNP: rs864622261
rs864622261
1 2 47414295 frameshift variant AAT/TG delins 0.700 0
dbSNP: rs864622183
rs864622183
2 2 47412516 stop gained G/A;T snv 0.700 0
dbSNP: rs864622121
rs864622121
2 1.000 0.080 2 47475228 frameshift variant GT/- del 0.700 0
dbSNP: rs863225397
rs863225397
2 2 47414268 splice acceptor variant G/A snv 0.700 1.000 4 2005 2016
dbSNP: rs863225395
rs863225395
2 2 47478361 stop gained C/G snv 0.700 0
dbSNP: rs863225394
rs863225394
2 2 47478358 frameshift variant T/- del 0.700 1.000 1 2011 2011
dbSNP: rs863225392
rs863225392
1 2 47478295 frameshift variant -/A delins 0.700 0
dbSNP: rs863224481
rs863224481
1 2 47403332 frameshift variant CGAGGACGCGCTGC/- del 0.700 0
dbSNP: rs796532309
rs796532309
1 2 47414411 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs786204082
rs786204082
3 1.000 0.160 2 47410218 missense variant G/A snv 0.700 1.000 4 1991 2013
dbSNP: rs786203424
rs786203424
2 2 47414306 stop gained T/A;G snv 0.700 0
dbSNP: rs786202083
rs786202083
1 2 47408539 stop gained G/A;C;T snv 0.700 0
dbSNP: rs786201066
rs786201066
2 2 47445622 stop gained C/T snv 0.700 1.000 2 2003 2012
dbSNP: rs770110491
rs770110491
1 2 47408406 stop gained A/G;T snv 4.0E-06 7.0E-06 0.700 0