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: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2016 2016
dbSNP: rs778361520
rs778361520
ADGRB2
9 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs797045360
rs797045360
ATP7A ; PGK1
2 1.000 0.160 X 78015810 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs8192709
rs8192709
CYP2B6
1 19 40991369 missense variant C/T snv 4.8E-02 4.9E-02 0.010 1.000 1 2007 2007