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: 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: 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: 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: 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: rs1836229
rs1836229
PTPRD
1 1.000 0.080 9 8820573 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
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: rs1918752
rs1918752
UTRN
1 1.000 0.080 6 144587941 intron variant A/T snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs1983167
rs1983167 		1 1.000 0.080 X 42989135 regulatory region variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2015 2015
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: rs340561
rs340561 		1 1.000 0.080 13 72274018 intergenic variant G/T snv 0.23 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: rs365032
rs365032
MYT1
1 1.000 0.080 20 64164052 intron variant A/G snv 0.26 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