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: rs10103191
rs10103191
1 8 91890204 intron variant G/A snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2010 2010
dbSNP: rs10748842
rs10748842
8 0.807 0.120 10 81889983 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs10868235
rs10868235
6 0.925 0.040 9 84878840 intron variant C/T snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs11123857
rs11123857
2 2 100987350 non coding transcript exon variant A/G snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1170191
rs1170191
1 13 42101357 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs135745
rs135745
13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1382119307
rs1382119307
1 6 31116450 missense variant C/G snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1409851868
rs1409851868
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1445081098
rs1445081098
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs147634553
rs147634553
1 17 44383518 synonymous variant G/A;T snv 6.5E-05; 4.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs1491850
rs1491850
6 0.925 0.080 11 27728178 intron variant T/C snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs1653625
rs1653625
1 12 121185082 3 prime UTR variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1657268
rs1657268
1 7 155082904 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs16940655
rs16940655
1 17 45816520 missense variant C/A;T snv 4.0E-06; 6.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs1789891
rs1789891
4 1.000 0.080 4 99329262 intron variant C/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 1996 1996
dbSNP: rs1801206
rs1801206
1 4 6300980 stop gained C/G;T snv 0.63 0.010 1.000 1 2005 2005