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: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs17358800
rs17358800
5 0.827 0.160 1 110235437 3 prime UTR variant A/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs1961637
rs1961637
5 0.827 0.160 2 223040390 regulatory region variant G/T snv 0.59 0.700 1.000 1 2016 2016
dbSNP: rs3828805
rs3828805
12 0.752 0.160 6 32668343 5 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs6847067
rs6847067
5 0.827 0.160 4 84811016 intron variant C/A snv 0.39 0.700 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2010 2010
dbSNP: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs2032809
rs2032809
3 0.882 0.120 19 47232959 upstream gene variant T/C snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs2276466
rs2276466
15 0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3136038
rs3136038
13 0.763 0.200 16 13919522 upstream gene variant C/T snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs3810294
rs3810294
3 0.882 0.120 19 47228572 intron variant C/T snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs3834129
rs3834129
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2019 2019
dbSNP: rs4647601
rs4647601
5 0.851 0.160 4 184648878 intron variant C/A snv 0.35 0.010 1.000 1 2019 2019