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: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2018 2019
dbSNP: rs121917893
rs121917893
10 0.807 0.160 X 71167508 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1457537911
rs1457537911
2 1.000 0.160 4 1801883 missense variant A/G snv 7.0E-06 0.010 1.000 1 2019 2019
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 1999 1999
dbSNP: rs62643364
rs62643364
7 0.851 0.160 20 4699466 synonymous variant A/G;T snv 4.0E-06; 1.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs906171410
rs906171410
2 1.000 0.160 3 12599738 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019