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: rs1867277
rs1867277
FOXE1 ; PTCSC2
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs371792178
rs371792178
DPYD
3 0.925 0.040 1 97699507 missense variant G/A;C snv 3.6E-05; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs62624461
rs62624461
SDHAF3
4 0.851 0.080 7 97117880 missense variant T/C snv 2.0E-02 1.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs4434401
rs4434401
CAST
2 0.925 0.040 5 96703321 intron variant T/C snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs767958027
rs767958027
ADRA2B
2 0.925 0.040 2 96114892 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs770419845
rs770419845
MIR17 ; MIR18A ; MIR19A ; MIR19B1 ; MIR20A ; MIR92A1 ; MIR17HG
3 0.882 0.080 13 91350709 non coding transcript exon variant GGGCTT/- delins 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs529638451
rs529638451
IDH2
4 0.925 0.080 15 90088732 missense variant T/A snv 0.010 1.000 1 2016 2016
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: rs267607165
rs267607165
TUBB3
18 0.708 0.520 16 89935679 missense variant G/A;C snv 0.010 1.000 1 2015 2015
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: rs104893875
rs104893875
SNCA
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.100 1.000 13 2000 2018
dbSNP: rs542171324
rs542171324
SNCA
6 0.851 0.160 4 89828148 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.010 1.000 1 2011 2011
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: 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: rs766552045
rs766552045
COQ2
2 0.925 0.040 4 83284854 missense variant C/T snv 5.3E-05 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs758847245
rs758847245
COQ2
2 0.925 0.040 4 83267696 missense variant C/T snv 6.1E-06 4.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs1159077388
rs1159077388
MPHOSPH6
1 1.000 16 82164193 missense variant A/T snv 4.3E-06 0.010 1.000 1 2000 2000
dbSNP: rs121908880
rs121908880
TSHR ; LOC101928462
3 0.882 0.040 14 81143973 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs571893270
rs571893270
TSHR ; LOC101928462
3 0.882 0.040 14 81143641 missense variant G/A snv 8.0E-05 2.1E-05 0.010 1.000 1 1998 1998
dbSNP: rs121908873
rs121908873
TSHR ; LOC101928462
7 0.790 0.160 14 81139828 missense variant G/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs2682818
rs2682818
LIN7A ; MIR618 ; LOC105369869
14 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 0.010 1.000 1 2016 2016
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