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 0.040 1.000 4 2012 2015
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2015
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2012 2015
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs121912665
rs121912665
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 1 2011 2011
dbSNP: rs2287497
rs2287497
3 0.882 0.120 17 7689462 intron variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2287498
rs2287498
4 0.882 0.120 17 7689242 synonymous variant C/T snv 0.13 0.14 0.010 1.000 1 2013 2013
dbSNP: rs397516436
rs397516436
34 0.641 0.440 17 7674894 stop gained G/A;C snv 0.710 1.000 1 1998 1998
dbSNP: rs876660754
rs876660754
20 0.701 0.360 17 7675095 missense variant C/A;T snv 0.710 1.000 1 2017 2017
dbSNP: rs1057517840
rs1057517840
3 0.925 0.200 17 7674904 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 0
dbSNP: rs1057519988
rs1057519988
10 0.776 0.240 17 7673812 missense variant A/C;G;T snv 0.700 0
dbSNP: rs1057519995
rs1057519995
9 0.807 0.240 17 7674200 missense variant T/A snv 0.700 0
dbSNP: rs1057519997
rs1057519997
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 0
dbSNP: rs1057520002
rs1057520002
20 0.695 0.360 17 7674242 missense variant A/C;G snv 0.700 0
dbSNP: rs1064793881
rs1064793881
3 0.925 0.120 17 7673784 missense variant C/T snv 0.700 0
dbSNP: rs1064793929
rs1064793929
5 0.882 0.280 17 7675167 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs1064796722
rs1064796722
1 1.000 0.120 17 7676043 missense variant A/C;G snv 0.700 0
dbSNP: rs1131691022
rs1131691022
6 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 0.700 0
dbSNP: rs1131691029
rs1131691029
6 0.827 0.160 17 7673794 missense variant C/G snv 0.700 0
dbSNP: rs1131691039
rs1131691039
5 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs11540654
rs11540654
4 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 0
dbSNP: rs11575997
rs11575997
2 0.925 0.200 17 7673534 splice donor variant C/A;G;T snv 0.700 0