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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 0.500 2 2006 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 0.500 2 2006 2019
dbSNP: rs12086634
rs12086634
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.010 1.000 1 2006 2006
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 2011 2011
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2075252
rs2075252
5 0.925 0.160 2 169154475 stop gained T/A;C snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs3755166
rs3755166
4 1.000 0.080 2 169363371 upstream gene variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2014 2014
dbSNP: rs4668123
rs4668123
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs846910
rs846910
6 0.882 0.160 1 209701909 intron variant A/G snv 0.95 0.010 1.000 1 2006 2006
dbSNP: rs9468
rs9468
6 0.882 0.080 17 46024197 3 prime UTR variant T/C snv 0.15 0.14 0.010 1.000 1 2014 2014