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: rs2239633
rs2239633
CEBPE
12 0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38 0.700 1.000 2 2016 2019
dbSNP: rs2296618
rs2296618
PTPRC
2 1 198697103 intron variant A/G snv 0.21 0.700 1.000 2 2016 2019
dbSNP: rs2579500
rs2579500
ARID5A
1 2 96535945 upstream gene variant G/A;C snv 0.700 1.000 2 2016 2019
dbSNP: rs2960422
rs2960422
PPARG
2 1.000 0.080 3 12293492 intron variant G/A snv 0.59 0.700 1.000 2 2016 2019
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 2 2009 2016
dbSNP: rs34173062
rs34173062
SHARPIN ; MAF1
3 8 144103704 missense variant G/A;C snv 7.3E-02 0.700 1.000 2 2016 2019
dbSNP: rs34290285
rs34290285
D2HGDH
8 0.851 0.120 2 241759225 intron variant G/A snv 0.27 0.700 1.000 2 2016 2019
dbSNP: rs36084354
rs36084354
ARHGAP45
3 19 1079960 missense variant G/A snv 5.7E-02 5.9E-02 0.700 1.000 2 2016 2019
dbSNP: rs410867
rs410867 		2 19 16316300 intron variant A/G snv 0.32 0.700 1.000 2 2016 2019
dbSNP: rs45577137
rs45577137
CEBPD
4 8 47739071 upstream gene variant A/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs4802399
rs4802399
RASGRP4 ; FAM98C
2 19 38409359 3 prime UTR variant G/A snv 5.5E-02 0.700 1.000 2 2016 2019
dbSNP: rs4848100
rs4848100
ANAPC1
2 2 111630955 non coding transcript exon variant C/T snv 0.76 0.700 1.000 2 2016 2019
dbSNP: rs511515
rs511515
BAK1 ; GGNBP1
2 6 33573730 3 prime UTR variant A/G snv 0.73 0.700 1.000 2 2016 2019
dbSNP: rs56330463
rs56330463 		2 5 148820448 upstream gene variant T/C snv 0.59 0.700 1.000 2 2016 2019
dbSNP: rs61612642
rs61612642
TRERF1
2 6 42229969 intron variant C/T snv 0.21 0.700 1.000 2 2016 2019
dbSNP: rs61731111
rs61731111
S1PR4
2 19 3179519 missense variant C/G;T snv 1.3E-02 0.700 1.000 2 2016 2019
dbSNP: rs62408225
rs62408225
BACH2
2 1.000 0.120 6 90246690 intron variant A/G snv 0.26 0.700 1.000 2 2016 2019
dbSNP: rs6568466
rs6568466 		2 6 107122949 intergenic variant T/C snv 0.58 0.700 1.000 2 2016 2019
dbSNP: rs6684992
rs6684992 		2 1 87286317 intergenic variant A/T snv 0.20 0.700 1.000 2 2016 2018
dbSNP: rs6920211
rs6920211
LOC105378010
4 6 135110180 regulatory region variant T/C snv 0.29 0.700 1.000 2 2016 2019
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.700 1.000 2 2016 2019
dbSNP: rs7288670
rs7288670
GGT5
4 22 24225858 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs73072483
rs73072483
DOCK3
2 3 50734193 intron variant G/A snv 9.6E-02 0.700 1.000 2 2016 2019
dbSNP: rs74480102
rs74480102
KDM6B
3 17 7839283 upstream gene variant G/A snv 2.5E-02 0.700 1.000 2 2016 2019
dbSNP: rs7569084
rs7569084
SPRED2
2 2 65429835 intron variant C/T snv 0.62 0.700 1.000 2 2016 2019