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: rs30187
rs30187
1 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.900 0.957 2 2009 2020
dbSNP: rs27434
rs27434
1 1.000 0.040 5 96793809 synonymous variant A/G;T snv 0.72; 1.2E-05 0.890 1.000 1 2009 2018
dbSNP: rs27529
rs27529
1 1.000 0.040 5 96790605 missense variant A/G;T snv 0.62 0.710 1.000 1 2011 2019
dbSNP: rs2910686
rs2910686
5 0.827 0.120 5 96916885 intron variant T/C snv 0.42 0.700 1.000 2 2013 2016
dbSNP: rs10045403
rs10045403
3 0.882 0.040 5 96812030 upstream gene variant A/G snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs2549803
rs2549803
5 0.827 0.120 5 96839226 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs469758
rs469758
5 0.827 0.120 5 96786011 intron variant C/T snv 0.62 0.63 0.700 1.000 1 2016 2016
dbSNP: rs4869313
rs4869313
14 0.724 0.240 5 96888176 intron variant T/A;G snv 0.700 1.000 1 2015 2015