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: 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: rs4489954
rs4489954
MAP2K5
1 1.000 0.080 15 67779737 intron variant T/A;G snv 0.710 1.000 2 2007 2018
dbSNP: rs6494696
rs6494696 		1 1.000 0.080 15 67810868 downstream gene variant G/A;C snv 0.710 1.000 2 2007 2017
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.020 1.000 2 2016 2019
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: 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: 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: 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: rs179945
rs179945
ATXN1
2 0.925 0.120 6 16396238 intron variant C/T snv 0.010 1.000 1 2016 2016
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: 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: rs35041767
rs35041767
PTPRD
1 1.000 0.080 9 9261737 intron variant -/C ins 0.700 1.000 1 2008 2008
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: rs3810651
rs3810651
GABRQ ; LOC105373370
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs45544231
rs45544231
CASC16
1 1.000 0.080 16 52598818 intron variant G/C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4746
rs4746
GLO1
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs6904723
rs6904723
BTBD9
1 1.000 0.080 6 38468541 intron variant A/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs7881785
rs7881785 		1 1.000 0.080 X 42995357 upstream gene variant A/G snv 0.700 1.000 1 2007 2007
dbSNP: rs7977109
rs7977109
NOS1
2 1.000 0.080 12 117292535 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs41305272
rs41305272
MAP2K5
6 0.851 0.120 15 67807105 3 prime UTR variant C/T snv 2.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs996064
rs996064 		1 1.000 0.080 15 35916797 upstream gene variant A/T snv 3.7E-02 0.700 1.000 1 2017 2017