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: rs1336432413
rs1336432413
VPS26A
1 1.000 0.040 10 69171174 stop gained A/T snv 0.020 1.000 2 2015 2016
dbSNP: rs1443067262
rs1443067262
VPS26B
1 1.000 0.040 11 134235007 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2011 2011
dbSNP: rs745601645
rs745601645
VPS26A
1 1.000 0.040 10 69157111 missense variant A/G snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs761807915
rs761807915
PRNP
4 0.925 0.120 20 4699824 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs772784579
rs772784579
GRN
2 1.000 0.040 17 44352387 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018