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: rs10208712
rs10208712 		1 1.000 0.080 2 3986856 regulatory region variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs1026732
rs1026732
MAP2K5
1 1.000 0.080 15 67802747 intron variant G/A snv 0.38 0.720 1.000 3 2007 2018
dbSNP: rs1052553
rs1052553
MAPT
8 0.827 0.200 17 45996523 synonymous variant A/G snv 0.14 0.15 0.010 1.000 1 2013 2013
dbSNP: rs10952927
rs10952927
LOC107986816
1 1.000 0.080 7 88729746 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs111652004
rs111652004 		1 1.000 0.080 15 47068169 intergenic variant G/T snv 8.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs113851554
rs113851554
MEIS1
5 0.882 0.080 2 66523432 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1143633
rs1143633
IL1B
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2014 2014
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs11635424
rs11635424
MAP2K5
1 1.000 0.080 15 67745240 intron variant A/G snv 0.53 0.710 1.000 2 2007 2018
dbSNP: rs12046503
rs12046503 		1 1.000 0.080 1 106652717 intergenic variant T/C snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2017 2017
dbSNP: rs12450895
rs12450895
LINC02086
1 1.000 0.080 17 48695414 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs12469063
rs12469063
MEIS1
2 0.925 0.080 2 66537176 intron variant A/G snv 0.18 0.700 1.000 1 2007 2007
dbSNP: rs12593813
rs12593813
MAP2K5
2 1.000 0.080 15 67744514 intron variant A/G snv 0.53 0.810 1.000 3 2007 2018
dbSNP: rs12962305
rs12962305
LINC01478
1 1.000 0.080 18 44290278 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs138915427
rs138915427
PTPRD
1 1.000 0.080 9 8341723 missense variant C/A;G;T snv 4.0E-06; 2.0E-05; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs17636328
rs17636328
LINC02520
1 1.000 0.080 6 37522755 intron variant A/G snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs179945
rs179945
ATXN1
2 0.925 0.120 6 16396238 intron variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 0.667 3 2013 2019
dbSNP: rs1800652
rs1800652
FXN
1 1.000 0.080 9 69046200 intron variant G/A snv 0.24 0.010 < 0.001 1 2013 2013
dbSNP: rs1801260
rs1801260
CLOCK ; TMEM165
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1820989
rs1820989 		1 1.000 0.080 2 67842758 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1830084
rs1830084
TF ; SRPRB ; LOC105374116
4 0.882 0.160 3 133789620 3 prime UTR variant A/G;T snv 0.020 1.000 2 2016 2019