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: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.700 1.000 2 2014 2019
dbSNP: rs1154433
rs1154433
3 1.000 0.080 4 99332551 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1693457
rs1693457
3 1.000 0.080 4 99315605 non coding transcript exon variant C/T snv 0.81 0.700 1.000 1 2014 2014
dbSNP: rs1789882
rs1789882
4 1.000 0.080 4 99313896 synonymous variant A/G;T snv 0.82 0.700 1.000 1 2014 2014
dbSNP: rs2075633
rs2075633
3 1.000 0.080 4 99317841 non coding transcript exon variant T/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs2173201
rs2173201
3 1.000 0.080 4 99329813 intron variant C/A snv 0.30 0.700 1.000 1 2014 2014
dbSNP: rs12639833
rs12639833
3 1.000 0.080 4 99346215 intron variant C/T snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs1612735
rs1612735
3 1.000 0.080 4 99336850 intron variant T/C snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs1614972
rs1614972
4 0.925 0.160 4 99336998 intron variant C/T snv 0.38 0.700 1.000 1 2014 2014
dbSNP: rs2241894
rs2241894
3 1.000 0.080 4 99344976 synonymous variant T/A;C snv 4.0E-06; 0.30 0.700 1.000 1 2014 2014
dbSNP: rs1789924
rs1789924
5 0.925 0.160 4 99353129 upstream gene variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17028615
rs17028615
4 1.000 0.080 4 99150767 intron variant A/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs5860563
rs5860563
3 1.000 0.080 4 99126006 intron variant -/A delins 0.700 1.000 1 2019 2019
dbSNP: rs147247472
rs147247472
5 0.925 0.080 1 49441901 intron variant G/A snv 7.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.700 1.000 1 2014 2014
dbSNP: rs2133896
rs2133896
5 0.925 0.080 12 99455122 intron variant G/T snv 7.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs2253612
rs2253612
3 1.000 0.080 2 200703710 intron variant C/T snv 0.79 0.700 1.000 1 2015 2015
dbSNP: rs35951
rs35951
3 1.000 0.080 5 54296531 intron variant G/T snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs11066001
rs11066001
15 0.763 0.360 12 111681367 intron variant T/C snv 5.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs8040009
rs8040009
3 1.000 0.080 15 92501109 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs3743832
rs3743832
4 1.000 0.080 16 9120023 3 prime UTR variant A/C snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs62313897
rs62313897
3 1.000 0.080 4 90215590 intron variant G/A snv 4.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs10211296
rs10211296
3 1.000 0.080 2 165633833 intron variant A/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs10196867
rs10196867
5 0.925 0.080 2 79751234 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs72737330
rs72737330
4 0.925 0.080 1 216600151 intron variant T/C snv 0.15 0.700 1.000 1 2017 2017