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: rs10510050
rs10510050
1 10 118867050 intron variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs160441
rs160441
2 1.000 0.040 8 89644760 intron variant T/C snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs218916
rs218916
2 1.000 0.040 8 89688709 intron variant C/T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs7694379
rs7694379
3 1.000 4 87265357 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs9574547
rs9574547
1 13 80057282 intron variant C/A snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs2274407
rs2274407
4 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 0.010 1.000 1 2009 2009
dbSNP: rs766715154
rs766715154
1 13 95206759 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1554785242
rs1554785242
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs863223318
rs863223318
2 1.000 0.120 10 27100460 5 prime UTR variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1554800065
rs1554800065
2 1.000 0.120 10 27100445 5 prime UTR variant G/C snv 0.700 0
dbSNP: rs28362731
rs28362731
2 7 30922175 missense variant G/A snv 3.1E-02 2.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs11789898
rs11789898
3 9 134060541 intron variant G/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2290280
rs2290280
1 5 87412904 5 prime UTR variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2287886
rs2287886
9 0.776 0.280 19 7747650 upstream gene variant A/G;T snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs735239
rs735239
5 0.851 0.240 19 7748382 upstream gene variant A/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1553196096
rs1553196096
5 1 22086463 missense variant G/A snv 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs121908064
rs121908064
3 1.000 0.080 17 4933367 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs121908065
rs121908065
5 0.851 0.080 17 4933119 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs757006129
rs757006129
3 1.000 0.160 17 4933521 missense variant G/A snv 2.4E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs757788894
rs757788894
6 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs794727505
rs794727505
CLTA ; GNE
1 9 36246181 missense variant A/G snv 8.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs2297630
rs2297630
6 0.827 0.160 10 44376100 intron variant G/A;T snv 0.21 0.010 1.000 1 2019 2019