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: rs137852983
rs137852983
1 1.000 0.280 2 144389740 missense variant T/C snv 0.800 1.000 5 2001 2011
dbSNP: rs727503784
rs727503784
1 1.000 0.280 2 144429811 frameshift variant A/- del 0.700 1.000 2 1991 2008
dbSNP: rs137852981
rs137852981
30 0.752 0.480 2 144399104 stop gained G/A snv 0.700 1.000 1 2001 2001
dbSNP: rs1560607925
rs1560607925
1 1.000 0.280 2 144401309 splice acceptor variant T/C snv 0.700 1.000 1 2005 2005
dbSNP: rs1560618505
rs1560618505
1 1.000 0.280 2 144424848 stop gained A/T snv 0.700 1.000 1 2007 2007
dbSNP: rs398124282
rs398124282
1 1.000 0.280 2 144517276 splice donor variant A/G snv 0.700 1.000 1 2005 2005
dbSNP: rs1060500653
rs1060500653
1 1.000 0.280 2 144390001 frameshift variant C/- del 0.700 0
dbSNP: rs111724246
rs111724246
1 1.000 0.280 2 144404063 stop gained G/C;T snv 0.700 0
dbSNP: rs1135401790
rs1135401790
1 1.000 0.280 2 144389926 missense variant C/T snv 0.700 0
dbSNP: rs1135402759
rs1135402759
4 1.000 0.280 2 144389932 missense variant T/C snv 0.700 0
dbSNP: rs137852980
rs137852980
1 1.000 0.280 2 144399542 stop gained T/A;G snv 4.0E-06 0.700 0
dbSNP: rs137852982
rs137852982
1 1.000 0.280 2 144398632 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1423851170
rs1423851170
1 1.000 0.280 2 144389896 stop gained G/T snv 0.700 0
dbSNP: rs1553960788
rs1553960788
1 1.000 0.280 2 144389978 missense variant G/A snv 0.700 0
dbSNP: rs1553960793
rs1553960793
1 1.000 0.280 2 144389987 stop gained T/A snv 0.700 0
dbSNP: rs1553961332
rs1553961332
1 1.000 0.280 2 144396456 missense variant A/C snv 0.700 0
dbSNP: rs1553961487
rs1553961487
1 1.000 0.280 2 144398381 frameshift variant C/- delins 0.700 0
dbSNP: rs1553961510
rs1553961510
1 1.000 0.280 2 144398498 frameshift variant -/T delins 0.700 0
dbSNP: rs1553961580
rs1553961580
1 1.000 0.280 2 144398960 frameshift variant A/- del 0.700 0
dbSNP: rs1553961585
rs1553961585
1 1.000 0.280 2 144398972 frameshift variant -/GGAG delins 0.700 0
dbSNP: rs1553961598
rs1553961598
1 1.000 0.280 2 144399034 stop gained -/TGGGAGCTAACGGCTTGGAGCTTCTTTCCAGGGATGGGGACCTGGAATTTGAGTACTGGTAGACTTTTCGTTGTTCAAACCATTCCTTCACAAATTCCTGAGGAAGGCCCACAGC delins 0.700 0
dbSNP: rs1553961610
rs1553961610
1 1.000 0.280 2 144399115 stop gained C/T snv 0.700 0
dbSNP: rs1553961695
rs1553961695
1 1.000 0.280 2 144399645 frameshift variant -/T ins 0.700 0
dbSNP: rs1553961702
rs1553961702
1 1.000 0.280 2 144399698 stop gained G/A snv 0.700 0
dbSNP: rs1553961747
rs1553961747
1 1.000 0.280 2 144400019 frameshift variant T/- delins 0.700 0