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: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2018 2018
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2014 2014
dbSNP: rs10814130
rs10814130
1 9 34637994 upstream gene variant C/A snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1017715903
rs1017715903
MPZ
2 1.000 0.080 1 161306854 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121918457
rs121918457
24 0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs4804217
rs4804217
3 1.000 0.040 19 7634461 intron variant C/T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 0.667 3 2005 2019
dbSNP: rs10950641
rs10950641
4 0.925 0.040 7 2294751 intron variant G/A snv 2.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs4775319
rs4775319
4 0.925 0.040 15 60921365 intron variant G/A snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2014 2014
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs104894851
rs104894851
3 0.925 0.200 X 101398920 stop gained G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs6796803
rs6796803
4 0.925 0.040 3 186746318 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs104894852
rs104894852
3 0.925 0.200 X 101397871 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs8065080
rs8065080
11 0.827 0.200 17 3577153 missense variant T/C snv 0.37 0.32 0.010 1.000 1 2017 2017
dbSNP: rs1800866
rs1800866
8 0.851 0.080 9 34637693 missense variant T/G snv 0.20 0.18 0.010 < 0.001 1 2019 2019