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: rs1840680
rs1840680
PTX3 ; VEPH1
6 0.807 0.200 3 157438240 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs368060
rs368060
GBA
3 0.882 0.200 1 155235217 missense variant C/G snv 1.4E-04 7.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2014 2014