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: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1057521065
rs1057521065
SCN4A
1 1.000 0.040 17 63968310 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs121912633
rs121912633
TRPV4
10 0.790 0.240 12 109792396 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs137854618
rs137854618
SCN5A
15 0.742 0.120 3 38566426 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs41261344
rs41261344
SCN5A
11 0.763 0.120 3 38575385 missense variant C/T snv 5.4E-03 2.2E-03 0.010 1.000 1 2012 2012
dbSNP: rs778250646
rs778250646
APP
2 0.925 0.080 21 26112008 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs786205753
rs786205753
CACNA1C
3 0.925 0.080 12 2593255 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs80338958
rs80338958
SCN4A
9 0.790 0.200 17 63945614 missense variant C/A;T snv 1.6E-05; 5.6E-05 0.010 1.000 1 2018 2018