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: rs289718
rs289718
3 16 56976020 intron variant C/T snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs289719
rs289719
3 16 56976029 intron variant T/C snv 0.66 0.700 1.000 1 2012 2012
dbSNP: rs289743
rs289743
2 16 56983884 downstream gene variant G/A;C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs289744
rs289744
2 16 56984190 downstream gene variant G/T snv 0.61 0.700 1.000 1 2011 2011
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: 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: rs11076176
rs11076176
4 16 56973534 intron variant T/A;G snv 2.4E-05; 0.22 0.700 1.000 2 2012 2012
dbSNP: rs1800777
rs1800777
2 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.700 1.000 2 2008 2012
dbSNP: rs4784744
rs4784744
3 16 56977273 non coding transcript exon variant G/A snv 0.30 0.700 1.000 2 2011 2012
dbSNP: rs708272
rs708272
4 0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38 0.700 1.000 2 2011 2012
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: rs711752
rs711752
6 1.000 0.040 16 56962299 splice region variant G/A;C snv 0.800 1.000 3 2008 2016
dbSNP: rs5882
rs5882
3 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.700 1.000 3 2008 2012
dbSNP: rs1532624
rs1532624
7 0.851 0.160 16 56971567 intron variant C/A snv 0.34 0.800 1.000 4 2009 2019