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: rs121913412
rs121913412
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs934945
rs934945
10 0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15 0.010 1.000 1 2018 2018
dbSNP: rs121912665
rs121912665
7 1.000 0.120 17 7674965 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs267606985
rs267606985
3 1.000 12 27963693 missense variant A/G snv 0.010 1.000 1 2010 2010