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: rs758921595
rs758921595
1 1.000 0.040 18 13826391 frameshift variant -/G ins 2.4E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs312262717
rs312262717
18 0.790 0.240 15 44659104 frameshift variant A/-;AA delins 0.700 1.000 1 2009 2009
dbSNP: rs7296288
rs7296288
DHH
5 0.851 0.080 12 49086185 upstream gene variant A/C snv 0.50 0.710 1.000 3 2011 2014
dbSNP: rs1935062
rs1935062
3 0.882 0.080 13 105475787 intron variant A/C snv 0.32 0.020 1.000 2 2009 2011
dbSNP: rs1054442
rs1054442
DDN
4 0.925 0.040 12 48995537 3 prime UTR variant A/C snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs11152369
rs11152369
5 0.851 0.040 18 55399097 intron variant A/C snv 6.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs11487077
rs11487077
1 1.000 0.040 7 103105631 intron variant A/C snv 6.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2012 2012
dbSNP: rs12275195
rs12275195
1 1.000 0.040 11 79394755 intron variant A/C snv 0.12 0.700 1.000 1 2014 2014
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs137928907
rs137928907
3 0.882 0.040 12 130827204 missense variant A/C snv 1.4E-02 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs17673138
rs17673138
4 0.851 0.040 8 32840440 intron variant A/C snv 8.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs17826395
rs17826395
1 1.000 0.040 5 7502943 intron variant A/C snv 0.16 0.700 1.000 1 2014 2014
dbSNP: rs182107583
rs182107583
2 0.925 0.080 2 149675023 intron variant A/C snv 4.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs4340844
rs4340844
1 1.000 0.040 4 55462689 intron variant A/C snv 0.33 0.010 1.000 1 2008 2008
dbSNP: rs4380187
rs4380187
3 0.925 0.040 2 184947213 intergenic variant A/C snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs6916861
rs6916861
FYN
1 1.000 0.040 6 111661054 3 prime UTR variant A/C snv 0.20 0.010 1.000 1 2009 2009
dbSNP: rs707467
rs707467
2 0.925 0.120 1 7801624 intron variant A/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs73057489
rs73057489
2 0.925 0.080 12 17370820 regulatory region variant A/C snv 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs8321
rs8321
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs420259
rs420259
2 0.925 0.040 16 23622705 intron variant A/C;G snv 0.810 1.000 3 2007 2011
dbSNP: rs11013860
rs11013860
1 1.000 0.040 10 18365098 intron variant A/C;G snv 0.11 0.020 1.000 2 2014 2019
dbSNP: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 2 2013 2014
dbSNP: rs12443954
rs12443954
5 0.851 0.040 16 89675088 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2070615
rs2070615
1 1.000 0.040 12 48824388 intron variant A/C;G snv 4.7E-06; 0.58 0.800 1.000 1 2011 2011