Source: ALL
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: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs564645287
rs564645287
IGHMBP2
2 0.925 0.080 11 68914972 missense variant C/G;T snv 4.3E-04; 1.2E-04 0.010 1.000 1 2016 2016