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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 0.959 387 2003 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.956 367 2003 2019
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.070 0.857 7 2004 2019
dbSNP: rs3748093
rs3748093
4 0.925 0.120 7 140800651 intron variant T/A snv 1.5E-02 0.020 1.000 2 2013 2016
dbSNP: rs11762469
rs11762469
2 1.000 0.080 7 140914412 intron variant A/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs121913375
rs121913375
7 0.851 0.240 7 140753339 missense variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs1267636
rs1267636
1 1.000 0.080 7 140792239 intron variant T/C snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs17161747
rs17161747
1 1.000 0.080 7 140858940 intron variant G/C snv 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs17623204
rs17623204
1 1.000 0.080 7 140806604 intron variant T/A snv 5.5E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs6464149
rs6464149
1 1.000 0.080 7 140926036 upstream gene variant A/C snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs7810757
rs7810757
1 1.000 0.080 7 140925302 upstream gene variant T/C snv 0.15 0.010 1.000 1 2019 2019