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: rs374128662
rs374128662
SACS
2 0.925 0.160 13 23355798 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1179247981
rs1179247981
CASKIN2 ; TSEN54
1 1.000 0.080 17 75517041 missense variant A/T snv 2.1E-05 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