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: rs75466054
rs75466054
CHAT
2 0.925 0.240 10 49625634 missense variant T/C;G snv 0.810 1.000 3 2001 2019
dbSNP: rs121912815
rs121912815
CHAT
1 1.000 0.200 10 49620546 missense variant C/G snv 7.0E-06 0.800 1.000 2 2001 2003
dbSNP: rs121912816
rs121912816
CHAT
1 1.000 0.200 10 49648546 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 2 2001 2003
dbSNP: rs121912817
rs121912817
CHAT
1 1.000 0.200 10 49651888 missense variant G/A;T snv 0.800 1.000 2 2001 2003
dbSNP: rs121912819
rs121912819
CHAT
2 0.925 0.240 10 49655139 missense variant G/A snv 8.8E-05 1.4E-05 0.800 1.000 2 2001 2003
dbSNP: rs121912820
rs121912820
CHAT
1 1.000 0.200 10 49620544 missense variant T/C snv 1.2E-04 1.1E-04 0.800 1.000 2 2001 2003
dbSNP: rs121912821
rs121912821
CHAT
1 1.000 0.200 10 49649618 missense variant C/T snv 1.6E-05 7.0E-06 0.800 1.000 2 2001 2003
dbSNP: rs121912822
rs121912822
CHAT
1 1.000 0.200 10 49646651 missense variant C/T snv 7.0E-06 0.800 1.000 2 2001 2003
dbSNP: rs121912823
rs121912823
CHAT
6 0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 0.800 1.000 2 2001 2003
dbSNP: rs201479289
rs201479289
CHAT
2 0.925 0.240 10 49619743 missense variant G/A snv 4.0E-05 1.0E-04 0.700 1.000 3 2011 2017
dbSNP: rs121912818
rs121912818
CHAT
1 1.000 0.200 10 49649569 missense variant A/C;G snv 4.0E-06 0.700 1.000 2 2001 2003
dbSNP: rs1272947184
rs1272947184
CHAT
1 1.000 0.200 10 49646646 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs1554802792
rs1554802792
CHAT
1 1.000 0.200 10 49620550 missense variant T/A snv 0.700 0
dbSNP: rs1554802808
rs1554802808
CHAT
1 1.000 0.200 10 49620584 frameshift variant G/- del 0.700 0
dbSNP: rs369251527
rs369251527
CHAT
1 1.000 0.200 10 49655102 stop gained C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs764497513
rs764497513
CHAT
1 1.000 0.200 10 49620535 missense variant G/A;C snv 1.2E-05; 4.0E-06 0.700 0