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: rs12046503
rs12046503 		1 1.000 0.080 1 106652717 intergenic variant T/C snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs371856018
rs371856018
MPZ
5 0.882 0.120 1 161307376 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2300478
rs2300478
MEIS1
6 0.851 0.120 2 66554321 intron variant T/G snv 0.21 0.820 1.000 4 2007 2016
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: 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: 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: rs1820989
rs1820989 		1 1.000 0.080 2 67842758 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs6747972
rs6747972 		1 1.000 0.080 2 67843093 intergenic variant A/G snv 0.65 0.810 1.000 1 2011 2011
dbSNP: rs80319144
rs80319144
CCDC148
1 1.000 0.080 2 158343323 intron variant C/T snv 0.18 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
dbSNP: rs2280673
rs2280673
RAB6B
3 0.882 0.160 3 133839310 intron variant A/C;T snv 0.020 1.000 2 2016 2019
dbSNP: rs1848460
rs1848460 		1 1.000 0.080 3 3406460 intron variant A/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs35987657
rs35987657
LOC105374107 ; LOC107986023
1 1.000 0.080 3 130816723 upstream gene variant A/G snv 0.29 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: 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: rs2229940
rs2229940
GABRA4 ; GABRB1
1 1.000 0.080 4 46993349 missense variant G/T snv 0.32 0.31 0.010 1.000 1 2018 2018
dbSNP: rs2412646
rs2412646
CLOCK ; TMEM165
3 0.882 0.120 4 55452605 3 prime UTR variant T/C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs9357271
rs9357271
BTBD9
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.880 1.000 11 2007 2019
dbSNP: rs3923809
rs3923809
BTBD9
1 1.000 0.080 6 38473194 intron variant A/G snv 0.32 0.820 1.000 4 2007 2017
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: rs9296249
rs9296249
BTBD9
3 0.882 0.120 6 38398065 intron variant T/C snv 0.30 0.820 1.000 3 2007 2017
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