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: rs761592007
rs761592007
4 0.882 0.160 19 44909013 missense variant G/A snv 1.5E-05 0.020 1.000 2 2000 2012
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.890 0.933 15 2005 2019
dbSNP: rs1440976751
rs1440976751
1 1.000 0.080 19 44907789 missense variant G/A snv 0.020 1.000 2 2006 2008
dbSNP: rs752600356
rs752600356
4 0.851 0.280 19 44908681 missense variant G/A;C snv 2.3E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs533904656
rs533904656
1 1.000 0.080 19 44907768 missense variant G/A;C snv 1.8E-04; 8.2E-06 0.010 1.000 1 2008 2008
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.900 0.950 20 2009 2019
dbSNP: rs769446
rs769446
6 0.882 0.120 19 44905371 upstream gene variant T/C snv 7.0E-02 0.740 1.000 5 2009 2018
dbSNP: rs449647
rs449647
2 0.925 0.120 19 44905307 upstream gene variant A/T snv 0.21 0.730 1.000 4 2009 2018
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs1233347077
rs1233347077
4 0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06 0.020 < 0.001 2 2010 2011
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.720 1.000 5 2011 2019
dbSNP: rs1167428194
rs1167428194
1 1.000 0.080 19 44908634 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1438607869
rs1438607869
1 1.000 0.080 19 44908741 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs7259620
rs7259620
2 0.925 0.120 19 44904531 upstream gene variant G/A;C snv 0.800 1.000 2 2013 2019
dbSNP: rs769449
rs769449
11 0.882 0.120 19 44906745 non coding transcript exon variant G/A snv 8.4E-02 0.700 1.000 2 2013 2019
dbSNP: rs1424027593
rs1424027593
1 1.000 0.080 19 44908639 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs199768005
rs199768005
4 0.882 0.160 19 44909057 missense variant T/A snv 4.5E-04 4.9E-04 0.010 1.000 1 2014 2014
dbSNP: rs981058595
rs981058595
1 1.000 0.080 19 44908847 missense variant C/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs759721023
rs759721023
1 1.000 0.080 19 44908936 missense variant G/A snv 8.4E-05 6.3E-05 0.010 1.000 1 2016 2016
dbSNP: rs1081105
rs1081105
1 1.000 0.080 19 44909698 non coding transcript exon variant A/C snv 3.0E-02 0.700 1.000 2 2018 2019
dbSNP: rs1270059098
rs1270059098
1 1.000 0.080 19 44906634 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs440446
rs440446
8 0.807 0.200 19 44905910 missense variant C/G;T snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs769450
rs769450
5 0.925 0.120 19 44907187 non coding transcript exon variant G/A snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs769452
rs769452
2 0.925 0.160 19 44907853 missense variant T/C snv 2.5E-03 1.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs748703149
rs748703149
3 0.882 0.080 19 44908729 missense variant G/A;C;T snv 6.3E-06; 6.3E-06 0.010 < 0.001 1 2020 2020