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: rs2515641
rs2515641
1 1.000 0.040 10 133537858 missense variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs772341885
rs772341885
1 1.000 0.040 2 120797406 missense variant G/A snv 3.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs77485247
rs77485247
3 0.925 0.080 18 24460578 upstream gene variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs665268
rs665268
MLX
3 0.882 0.160 17 42570011 missense variant A/G snv 0.28 0.25 0.010 1.000 1 2018 2018
dbSNP: rs6871626
rs6871626
5 0.851 0.160 5 159399784 intron variant C/A;G snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs77041280
rs77041280
2 0.925 0.160 18 24477516 missense variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs112550005
rs112550005
18 0.742 0.240 15 48425829 stop gained G/A snv 0.700 0
dbSNP: rs111854391
rs111854391
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0