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: rs2072590
rs2072590
4 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.720 1.000 4 2010 2017
dbSNP: rs10088218
rs10088218
4 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.710 1.000 3 2010 2013
dbSNP: rs4320932
rs4320932
3 0.882 0.120 11 2150371 intron variant T/C snv 0.19 0.020 1.000 2 2011 2013
dbSNP: rs4691139
rs4691139
2 1.000 0.120 4 164987569 non coding transcript exon variant A/G;T snv 0.800 1.000 2 2013 2017
dbSNP: rs9303542
rs9303542
3 0.882 0.120 17 48334138 intron variant A/G snv 0.34 0.700 1.000 2 2010 2013
dbSNP: rs10098821
rs10098821
3 0.882 0.120 8 128546982 intron variant C/T snv 7.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs10260419
rs10260419
3 0.882 0.120 7 11524758 intron variant C/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs10674174
rs10674174
1 1.000 0.120 13 61317942 intergenic variant -/G ins 0.700 1.000 1 2016 2016
dbSNP: rs10858374
rs10858374
1 1.000 0.120 9 135247660 intron variant T/C snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs10899426
rs10899426
1 1.000 0.120 11 78008566 intergenic variant T/C snv 3.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs10962692
rs10962692
3 0.925 0.120 9 16915876 upstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11084033
rs11084033
4 0.882 0.120 19 50850699 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs111478044
rs111478044
1 1.000 0.120 21 21308069 intron variant TA/-;TATA delins 0.700 1.000 1 2019 2019
dbSNP: rs111970895
rs111970895
1 1.000 0.120 5 102301953 upstream gene variant -/AAA;AAAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1136905
rs1136905
3 0.882 0.120 6 32518660 missense variant T/A;C snv 4.2E-03 0.010 1.000 1 2018 2018
dbSNP: rs11683487
rs11683487
NMI
3 0.882 0.120 2 151286035 intron variant G/T snv 0.36 0.010 1.000 1 2009 2009
dbSNP: rs11782652
rs11782652
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs11973028
rs11973028
1 1.000 0.120 7 27853217 intron variant C/T snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs12025262
rs12025262
1 1.000 0.120 1 247193430 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12031579
rs12031579
1 1.000 0.120 1 119307920 intron variant G/A snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs12117623
rs12117623
1 1.000 0.120 1 172072640 intron variant C/A snv 0.25 0.700 1.000 1 2018 2018
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: rs12658731
rs12658731
1 1.000 0.120 5 5169477 intron variant G/A snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs13063604
rs13063604
3 0.882 0.120 3 128085887 intron variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs137672
rs137672
1 1.000 0.120 22 39341089 intergenic variant C/T snv 0.40 0.700 1.000 1 2018 2018