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: rs385893
rs385893 		9 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.700 1.000 5 2009 2019
dbSNP: rs9399137
rs9399137
HBS1L
13 0.851 0.320 6 135097880 intron variant T/C snv 0.20 0.800 1.000 5 2009 2019
dbSNP: rs11066301
rs11066301
PTPN11
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs210135
rs210135
BAK1 ; GGNBP1
1 6 33572915 3 prime UTR variant T/A;C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs5745568
rs5745568
BAK1 ; GGNBP1
4 0.882 0.080 6 33580617 intron variant G/T snv 0.19 0.700 1.000 3 2010 2019
dbSNP: rs6141
rs6141
THPO
4 0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56 0.800 1.000 3 2010 2018
dbSNP: rs6065
rs6065
CHRNE ; GP1BA
6 0.851 0.280 17 4933086 missense variant C/T snv 9.8E-02 0.13 0.800 1.000 2 2010 2011
dbSNP: rs739496
rs739496
ATXN2 ; SH2B3
10 0.790 0.160 12 111449855 3 prime UTR variant A/G snv 0.27 0.700 1.000 2 2010 2014
dbSNP: rs7775698
rs7775698
HBS1L
14 1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02 0.700 1.000 2 2010 2019
dbSNP: rs1354034
rs1354034
ARHGEF3
4 3 56815721 intron variant T/C snv 0.49 0.800 1.000 8 2011 2019
dbSNP: rs210134
rs210134
BAK1 ; GGNBP1
3 1.000 0.120 6 33572432 intron variant A/G snv 0.72 0.800 1.000 6 2011 2019
dbSNP: rs11082304
rs11082304
CABLES1
6 18 23141009 intron variant G/C;T snv 0.800 1.000 4 2011 2019
dbSNP: rs6993770
rs6993770
ZFPM2 ; ZFPM2-AS1
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.800 1.000 4 2011 2019
dbSNP: rs8109288
rs8109288
TPM4
2 19 16074749 non coding transcript exon variant G/A snv 3.9E-02 0.800 1.000 4 2011 2019
dbSNP: rs10761731
rs10761731
JMJD1C
6 10 63267850 intron variant A/T snv 0.38 0.800 1.000 3 2011 2019
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 3 2011 2018
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 3 2011 2016
dbSNP: rs342275
rs342275
CTB-30L5.1
1 7 106718770 intron variant C/T snv 0.33 0.800 1.000 2 2011 2019
dbSNP: rs3731211
rs3731211
CDKN2A
7 9 21986848 intron variant T/A snv 0.74 0.800 1.000 2 2011 2016
dbSNP: rs3819299
rs3819299
HLA-B
5 1.000 6 31354590 non coding transcript exon variant T/G snv 7.7E-02 2.3E-02 0.800 1.000 2 2011 2016
dbSNP: rs409801
rs409801 		1 9 4744743 intron variant T/C snv 0.38 0.800 1.000 2 2011 2019
dbSNP: rs505404
rs505404
PSMD13
2 11 243268 non coding transcript exon variant T/G snv 0.28 0.800 1.000 2 2011 2014
dbSNP: rs559972
rs559972
TAOK1
1 17 29487478 intron variant C/T snv 0.38 0.800 1.000 2 2011 2019
dbSNP: rs7342306
rs7342306
LOC105369623
1 12 6181927 intergenic variant G/A;T snv 0.33 0.800 1.000 2 2011 2016
dbSNP: rs7641175
rs7641175
TBC1D5
3 3 18269920 intron variant G/A snv 0.81 0.800 1.000 2 2011 2016