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: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2010 2010
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12630592
rs12630592
5 0.851 0.080 3 120049399 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs16856199
rs16856199
1 1.000 0.040 1 232018366 intron variant T/A snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs28383487
rs28383487
1 1.000 0.040 11 27722009 5 prime UTR variant G/T snv 1.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs496250
rs496250
5 0.851 0.080 3 180909515 intron variant G/A snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2011 2011
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2011 2011