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: rs201257588
rs201257588
9 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.700 1.000 2 2014 2014
dbSNP: rs312262830
rs312262830
4 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 2 2008 2014
dbSNP: rs398122965
rs398122965
13 0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966
9 0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967
12 0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
9 0.882 0.280 16 2499425 splice region variant G/A snv 0.700 1.000 2 2014 2014
dbSNP: rs672601372
rs672601372
3 0.925 0.120 5 168486503 missense variant A/C;G;T snv 4.2E-05 0.700 1.000 2 2014 2017
dbSNP: rs747821285
rs747821285
9 0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06 0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
9 0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs773850151
rs773850151
2 1.000 6 98899353 missense variant C/G;T snv 8.0E-06 0.700 1.000 2 2015 2017
dbSNP: rs797044548
rs797044548
9 0.882 0.280 16 2498253 missense variant G/T snv 0.700 1.000 2 2014 2014
dbSNP: rs869312812
rs869312812
2 1.000 17 39684627 frameshift variant G/-;GG delins 0.700 1.000 2 2016 2018
dbSNP: rs121918104
rs121918104
3 0.925 0.120 10 71825892 missense variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs397515352
rs397515352
3 0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs587777819
rs587777819
3 0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs886037931
rs886037931
2 1.000 1 225921209 stop gained G/A snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1057517295
rs1057517295
2 1.000 0.320 8 99096433 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1057520918
rs1057520918
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
dbSNP: rs1057521927
rs1057521927
2 1.000 1 151017860 missense variant G/A snv 0.700 0
dbSNP: rs1060499734
rs1060499734
2 1.000 6 31780935 missense variant G/A snv 0.700 0
dbSNP: rs1060499735
rs1060499735
2 1.000 4 786584 stop gained C/A snv 0.700 0
dbSNP: rs1060499736
rs1060499736
1 X 129523364 stop gained G/A snv 0.700 0
dbSNP: rs1060499737
rs1060499737
3 12 124968903 missense variant G/T snv 0.700 0
dbSNP: rs1060499742
rs1060499742
1 10 60071229 missense variant G/A snv 0.700 0
dbSNP: rs1060499743
rs1060499743
1 10 24596030 missense variant A/C snv 0.700 0