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: rs182650126
rs182650126
1 1.000 0.040 2 166280452 missense variant T/C snv 2.4E-03 2.7E-03 0.710 1.000 1 2012 2012
dbSNP: rs200398202
rs200398202
1 1.000 0.040 2 166284560 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs200945460
rs200945460
2 0.925 0.080 2 166280508 missense variant A/G;T snv 4.7E-06; 1.6E-04 0.700 0
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs151090729
rs151090729
1 1.000 0.040 3 38698236 missense variant C/T snv 1.5E-03 6.1E-04 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 2007 2007
dbSNP: rs377591051
rs377591051
4 0.851 0.080 6 162262651 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs754960592
rs754960592
1 1.000 0.040 3 38756870 missense variant G/A;T snv 1.2E-05; 1.2E-05 0.010 1.000 1 2019 2019