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: rs398123064
rs398123064
GBA2
2 0.925 0.280 9 35739017 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.010 1.000 1 2015 2015
dbSNP: rs767622491
rs767622491
SACS
2 0.925 0.280 13 23331215 missense variant G/C snv 8.0E-06 0.010 1.000 1 2017 2017