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: rs291044
rs291044
2 16 56977540 non coding transcript exon variant G/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs4587963
rs4587963
2 16 56963457 intron variant A/T snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs4783962
rs4783962
2 16 56961126 upstream gene variant T/C snv 0.80 0.700 1.000 1 2012 2012
dbSNP: rs4784745
rs4784745
2 16 56980963 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs708273
rs708273
2 16 56966037 intron variant A/G snv 0.76 0.700 1.000 1 2012 2012
dbSNP: rs7203984
rs7203984
6 16 56965346 intron variant A/C snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs736274
rs736274
2 16 56975857 intron variant T/A snv 8.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs891144
rs891144
2 16 56978024 non coding transcript exon variant C/T snv 7.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs9930761
rs9930761
2 16 56973280 intron variant T/C snv 5.9E-02 7.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs711752
rs711752
6 1.000 0.040 16 56962299 splice region variant G/A;C snv 0.800 1.000 3 2008 2016
dbSNP: rs1801706
rs1801706
2 1.000 0.040 16 56983750 3 prime UTR variant G/A snv 0.17 0.800 1.000 1 2012 2018
dbSNP: rs820299
rs820299
2 16 56966372 intron variant G/A;C snv 0.800 1.000 1 2012 2018
dbSNP: rs9939224
rs9939224
6 1.000 0.040 16 56968820 intron variant T/G snv 0.75 0.800 1.000 1 2012 2018
dbSNP: rs1800775
rs1800775
7 0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 0.800 1.000 5 2007 2019
dbSNP: rs1532624
rs1532624
7 0.851 0.160 16 56971567 intron variant C/A snv 0.34 0.800 1.000 4 2009 2019
dbSNP: rs5880
rs5880
2 0.827 0.040 16 56981179 missense variant G/C snv 5.2E-02 3.7E-02 0.800 1.000 4 2008 2019
dbSNP: rs7499892
rs7499892
6 16 56972678 intron variant C/G;T snv 0.800 1.000 4 2011 2019
dbSNP: rs1864163
rs1864163
8 0.882 0.120 16 56963321 intron variant G/A snv 0.26 0.800 1.000 3 2008 2019
dbSNP: rs4783961
rs4783961
3 0.851 0.320 16 56960982 upstream gene variant G/A snv 0.48 0.47 0.800 1.000 3 2012 2019
dbSNP: rs17231506
rs17231506
5 0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28 0.800 1.000 2 2012 2019
dbSNP: rs17231520
rs17231520
2 0.851 0.240 16 56961915 upstream gene variant G/A snv 2.1E-02 0.800 1.000 2 2012 2019
dbSNP: rs5883
rs5883
2 1.000 0.040 16 56973441 synonymous variant C/T snv 5.1E-02 6.6E-02 0.800 1.000 2 2012 2019
dbSNP: rs11076174
rs11076174
2 16 56969234 intron variant T/C snv 0.10 0.800 1.000 1 2012 2019
dbSNP: rs12708980
rs12708980
2 16 56978467 intron variant T/G snv 0.36 0.800 1.000 1 2011 2019
dbSNP: rs12720922
rs12720922
4 16 56966973 intron variant G/A snv 0.23 0.800 1.000 1 2012 2019