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: 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: rs3794087
rs3794087
SLC1A2
6 0.851 0.120 11 35308068 intron variant G/T snv 0.20 0.010 < 0.001 1 2014 2014
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: 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: 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: rs3104767
rs3104767
CASC16
2 0.925 0.080 16 52590826 intron variant G/T snv 0.49 0.840 1.000 4 2011 2020
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: 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: 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: rs1975197
rs1975197
PTPRD
1 1.000 0.080 9 8846955 intron variant G/A snv 0.16 0.810 1.000 3 2008 2011
dbSNP: rs4626664
rs4626664
PTPRD
1 1.000 0.080 9 9261737 intron variant G/A snv 0.20 0.820 1.000 3 2008 2014
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.030 1.000 3 2015 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: 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: 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: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.020 1.000 2 2015 2018
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: rs3784709
rs3784709
MAP2K5
1 1.000 0.080 15 67779937 intron variant C/T snv 0.36 0.710 1.000 2 2007 2018
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: 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: 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