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: rs1064794270
rs1064794270
1 1 17028738 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1131691047
rs1131691047
1 1 17023976 frameshift variant C/- del 0.700 0
dbSNP: rs1131691049
rs1131691049
5 0.882 0.080 1 17054019 start lost T/A snv 0.700 0
dbSNP: rs1131691050
rs1131691050
1 1 17024005 frameshift variant -/GTTCC delins 0.700 0
dbSNP: rs1131691051
rs1131691051
1 1 17033108 missense variant T/C snv 0.700 0
dbSNP: rs1131691052
rs1131691052
2 1.000 0.080 1 17023972 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1131691053
rs1131691053
1 1 17024009 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691054
rs1131691054
1 1 17033068 missense variant C/A snv 0.700 0
dbSNP: rs1131691055
rs1131691055
4 0.925 0.080 1 17044889 splice acceptor variant C/A;T snv 0.700 0
dbSNP: rs1131691057
rs1131691057
1 1 17053948 frameshift variant -/T delins 0.700 0
dbSNP: rs1131691059
rs1131691059
1 1 17024011 frameshift variant TCCACCAGTA/CC delins 0.700 0
dbSNP: rs1553177292
rs1553177292
1 1 17022731 splice acceptor variant C/T snv 0.700 0
dbSNP: rs398123690
rs398123690
4 0.925 0.080 1 17044849 frameshift variant G/-;GGG delins 0.700 0
dbSNP: rs587782617
rs587782617
4 0.925 0.080 1 17023999 frameshift variant ATTTGTCTCC/- del 0.700 0
dbSNP: rs587782904
rs587782904
1 1 17033143 missense variant C/T snv 0.700 0
dbSNP: rs778952116
rs778952116
3 0.925 0.080 1 17028736 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs786203506
rs786203506
4 0.925 0.080 1 17028649 stop gained G/A;C;T snv 0.700 0
dbSNP: rs794728946
rs794728946
2 1.000 0.080 1 17027763 stop gained C/A;G snv 0.700 0
dbSNP: rs794728949
rs794728949
1 1 17027808 frameshift variant C/- delins 0.700 0
dbSNP: rs876658451
rs876658451
1 1 17027844 stop gained G/A snv 0.700 0
dbSNP: rs876659491
rs876659491
1 1 17027847 frameshift variant C/- del 0.700 0
dbSNP: rs876660368
rs876660368
1 1 17023967 splice donor variant CCTCACC/- del 0.700 0
dbSNP: rs916516745
rs916516745
1 1 17022719 stop gained C/T snv 0.700 0
dbSNP: rs786202732
rs786202732
5 0.882 0.080 1 17024041 missense variant A/G snv 0.700 1.000 12 1995 2018
dbSNP: rs397516835
rs397516835
4 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 1.000 6 1995 2013