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: rs17571
rs17571
CTSD
6 0.827 0.120 11 1761364 missense variant G/A snv 7.0E-02 6.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs587777343
rs587777343
STUB1 ; JMJD8
5 0.925 0.120 16 682232 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2018 2018