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: rs755287627
rs755287627
1 1.000 0.120 4 113353494 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs796052197
rs796052197
1 1.000 0.120 4 113354767 missense variant T/C snv 0.700 0
dbSNP: rs796052198
rs796052198
1 1.000 0.120 4 113356741 missense variant T/C snv 0.700 0
dbSNP: rs1408198357
rs1408198357
1 1.000 0.120 4 113373391 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs199830292
rs199830292
3 0.882 0.120 11 128916630 missense variant G/C snv 1.7E-04 7.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs762510312
rs762510312
3 0.925 0.120 7 150946956 missense variant G/A;C snv 4.8E-05; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs794728470
rs794728470
2 1.000 0.120 7 150947367 frameshift variant -/TCGCCCCG delins 1.4E-05 0.700 0
dbSNP: rs794728466
rs794728466
1 1.000 0.120 7 150947371 frameshift variant CCGGGGCCGCC/-;CCGGGGCCGCCCCGGGGCCGCC delins 1.4E-05 0.700 0
dbSNP: rs794728469
rs794728469
1 1.000 0.120 7 150947373 frameshift variant C/-;CC;CCC;CCCC;CCCCC delins 0.700 1.000 2 2013 2017
dbSNP: rs794728468
rs794728468
1 1.000 0.120 7 150947377 frameshift variant G/- delins 0.700 1.000 2 2005 2010
dbSNP: rs1554424070
rs1554424070
1 1.000 0.120 7 150947378 frameshift variant CGCCGACCCGGGC/- delins 0.700 1.000 2 2006 2009
dbSNP: rs1554424079
rs1554424079
1 1.000 0.120 7 150947381 frameshift variant -/GC delins 0.700 0
dbSNP: rs1554424083
rs1554424083
1 1.000 0.120 7 150947383 frameshift variant -/ACCCG delins 0.700 0
dbSNP: rs864622309
rs864622309
1 1.000 0.120 7 150947386 frameshift variant G/- del 0.700 0
dbSNP: rs864622174
rs864622174
1 1.000 0.120 7 150947420 frameshift variant G/-;GG delins 0.700 1.000 1 2013 2013
dbSNP: rs1554424138
rs1554424138
1 1.000 0.120 7 150947426 frameshift variant G/- delins 0.700 0
dbSNP: rs794728403
rs794728403
1 1.000 0.120 7 150947440 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1057520558
rs1057520558
1 1.000 0.120 7 150947453 stop gained G/C snv 0.700 0
dbSNP: rs794728504
rs794728504
1 1.000 0.120 7 150947463 frameshift variant C/- delins 0.700 1.000 4 2003 2015
dbSNP: rs794728401
rs794728401
1 1.000 0.120 7 150947478 stop gained C/G;T snv 0.700 0
dbSNP: rs748706373
rs748706373
1 1.000 0.120 7 150947611 frameshift variant AG/- del 0.700 1.000 4 2000 2016
dbSNP: rs761585108
rs761585108
1 1.000 0.120 7 150947640 stop gained G/A;C;T snv 1.6E-05; 8.2E-06 0.700 0
dbSNP: rs786204101
rs786204101
1 1.000 0.120 7 150947670 frameshift variant -/G delins 0.700 0
dbSNP: rs1064795287
rs1064795287
2 0.925 0.120 7 150947683 frameshift variant GG/T delins 0.010 1.000 1 2018 2018
dbSNP: rs199473014
rs199473014
2 0.925 0.120 7 150947684 missense variant G/T snv 2.1E-05 0.010 1.000 1 2018 2018