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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs10014396
rs10014396
1 1.000 0.040 4 89791478 intron variant T/C snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs10079250
rs10079250
7 0.827 0.120 5 150070569 missense variant T/C snv 9.9E-02 8.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1013639215
rs1013639215
1 1.000 0.040 10 102231987 missense variant C/G;T snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1014290
rs1014290
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs10214163
rs10214163
1 1.000 0.040 5 75998585 intergenic variant C/A;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs10247962
rs10247962
2 1.000 0.040 7 100622306 intron variant G/A snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs10256359
rs10256359
1 1.000 0.040 7 23084258 intergenic variant C/T snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs10380
rs10380
6 0.807 0.200 5 7897078 missense variant C/T snv 0.16 0.18 0.010 1.000 1 2011 2011
dbSNP: rs10410544
rs10410544
6 0.827 0.120 19 38894892 intron variant T/C snv 0.68 0.67 0.010 < 0.001 1 2019 2019
dbSNP: rs1043424
rs1043424
1 1.000 0.040 1 20650507 missense variant A/C snv 0.29 0.28 0.010 1.000 1 2004 2004
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.020 1.000 2 2010 2015
dbSNP: rs1044397
rs1044397
7 0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41 0.010 1.000 1 2015 2015
dbSNP: rs10445337
rs10445337
3 0.925 0.120 17 45990034 missense variant T/C snv 0.15 0.15 0.700 1.000 1 2012 2012
dbSNP: rs10445338
rs10445338
2 1.000 0.040 17 45990316 intron variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs10445364
rs10445364
2 1.000 0.040 17 45838990 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.500 6 2004 2016
dbSNP: rs10463554
rs10463554
PAM
1 1.000 0.040 5 102983270 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1048230
rs1048230
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1048603
rs1048603
1 1.000 0.040 2 233485841 missense variant G/A;T snv 0.32; 1.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs104893863
rs104893863
2 0.925 0.120 4 17511987 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.100 1.000 28 2005 2019
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.100 0.980 153 1997 2020
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.100 0.957 70 1998 2019