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: rs28933385
rs28933385
PRNP
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.020 1.000 2 2009 2020
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 1.000 32 2006 2019
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: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.050 1.000 5 2003 2019
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.030 1.000 3 2006 2019
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: rs112735431
rs112735431
RNF213 ; RNF213-AS1
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs1799971
rs1799971
OPRM1
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2019 2019
dbSNP: rs6471
rs6471
CYP21A2
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.100 1.000 13 2000 2018
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 10 1985 2018
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.030 1.000 3 2003 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs1061302
rs1061302
NBN
5 0.827 0.160 8 89946194 synonymous variant T/C snv 0.35 0.30 0.010 1.000 1 2018 2018
dbSNP: rs11871753
rs11871753
BRIP1
4 0.851 0.120 17 61779284 intron variant A/G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs121918077
rs121918077
TTR
3 0.882 0.120 18 31592992 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs145047094
rs145047094
AIP
3 0.882 0.160 11 67483205 missense variant G/A snv 2.0E-03 1.9E-03 0.010 1.000 1 2018 2018
dbSNP: rs147066627
rs147066627
FUS
2 0.925 0.080 16 31182593 missense variant G/C snv 6.8E-05 3.3E-04 0.010 1.000 1 2018 2018
dbSNP: rs16945628
rs16945628
BRIP1
4 0.851 0.120 17 61789868 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs1800472
rs1800472
TGFB1
11 0.752 0.360 19 41341955 missense variant G/A snv 2.6E-02 2.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2299941
rs2299941
PTEN
3 0.882 0.080 10 87944962 intron variant A/G snv 9.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs2735343
rs2735343
PTEN
11 0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs39399
rs39399
RELN
2 0.925 0.040 7 103849545 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs45539432
rs45539432
PINK1 ; PINK1-AS
5 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.010 1.000 1 2018 2018