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: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.100 1.000 13 2000 2018
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.080 1.000 8 2000 2019
dbSNP: rs35705950
rs35705950 		14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.050 1.000 5 2011 2016
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.040 1.000 4 1998 2002
dbSNP: rs188286943
rs188286943
VPS35
9 0.776 0.160 16 46662452 missense variant C/T snv 0.040 1.000 4 2011 2015
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.030 1.000 3 2012 2016
dbSNP: rs121912431
rs121912431
SOD1
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.020 1.000 2 2000 2001
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.020 1.000 2 2013 2016
dbSNP: rs1475170339
rs1475170339
IGFALS ; SPSB3
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.020 1.000 2 2012 2016
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.020 1.000 2 2003 2013
dbSNP: rs3803662
rs3803662
CASC16
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.020 1.000 2 2014 2016
dbSNP: rs5177
rs5177
LRP8
6 0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv 0.020 1.000 2 2013 2014
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.020 1.000 2 2001 2017
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.020 1.000 2 1993 2005
dbSNP: rs1048103951
rs1048103951
TXNRD1
2 0.925 0.040 12 104321282 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs104894021
rs104894021
KCNH2
5 0.851 0.120 7 150951629 missense variant G/C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs104894073
rs104894073
GATA4
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs104894613
rs104894613
NOG
3 0.882 0.040 17 56594609 stop gained T/A snv 0.010 1.000 1 2001 2001
dbSNP: rs1057519980
rs1057519980
TP53
1 1.000 17 7675084 missense variant G/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1060499619
rs1060499619
SYNJ1
4 0.851 0.040 21 32681590 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs10993994
rs10993994
MSMB
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs1159805691
rs1159805691
IGFALS ; SPSB3
4 0.851 0.080 16 1792266 frameshift variant T/- del 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs1176026649
rs1176026649
PALLD ; CBR4
4 0.851 0.120 4 168921582 missense variant C/T snv 7.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs1183365192
rs1183365192
RET
4 0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06 0.010 1.000 1 1997 1997