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: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2005 2011
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 13 2004 2016
dbSNP: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 3 2014 2017
dbSNP: rs1056892
rs1056892
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.010 1.000 1 2008 2008
dbSNP: rs1057517590
rs1057517590
2 1.000 17 43063370 frameshift variant A/- del 0.700 1.000 1 2004 2004
dbSNP: rs1057518635
rs1057518635
2 1.000 13 32340367 frameshift variant ATAG/- delins 0.700 0
dbSNP: rs1057518636
rs1057518636
3 1.000 17 43047646 frameshift variant -/A ins 0.700 0
dbSNP: rs1057518637
rs1057518637
3 1.000 13 32336621 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518638
rs1057518638
2 1.000 13 32339317 stop gained T/A snv 0.700 0
dbSNP: rs1057519045
rs1057519045
6 0.851 0.160 10 121498522 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519699
rs1057519699
2 3 179218315 missense variant G/A snv 0.700 1.000 8 2004 2012
dbSNP: rs1057519714
rs1057519714
1 6 152094402 missense variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519715
rs1057519715
2 1.000 0.080 6 152098779 missense variant T/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519716
rs1057519716
1 6 152098782 missense variant C/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519717
rs1057519717
1 6 152098785 missense variant T/G snv 0.700 1.000 2 2013 2013
dbSNP: rs1057519724
rs1057519724
3 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 4 1999 2010
dbSNP: rs1057519727
rs1057519727
1 15 28260829 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519737
rs1057519737
1 17 39724750 inframe insertion -/GCTCCCCAG delins 0.700 1.000 1 2013 2013
dbSNP: rs1057519738
rs1057519738
10 0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06 0.700 1.000 3 2006 2016
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519787
rs1057519787
2 1.000 0.040 17 39711952 missense variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519816
rs1057519816
14 0.763 0.200 17 39711955 missense variant C/A;T snv 0.700 1.000 1 2016 2016