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: rs9814870
rs9814870 		1 3 95969999 intergenic variant A/G;T snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs28939068
rs28939068
CST3
9 0.790 0.200 20 23635330 missense variant A/T snv 0.010 1.000 1 2014 2014
dbSNP: rs6631
rs6631
CGA
1 6 87085541 3 prime UTR variant A/T snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2016 2016
dbSNP: rs10841496
rs10841496
PDE3A
1 12 20368720 intron variant C/A snv 0.43 0.800 1.000 1 2010 2010
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs4804490
rs4804490
DNMT1
1 19 10156335 intron variant C/A snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs10459953
rs10459953
NOS2
3 0.925 0.080 17 27800492 5 prime UTR variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs374623109
rs374623109
FSHB ; LOC105376607
2 1.000 0.040 11 30233753 stop gained C/A;T snv 1.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs3750075
rs3750075
FKBP6 ; TRIM50
1 7 73329400 missense variant C/A;T snv 2.4E-03 8.7E-04 0.010 1.000 1 2007 2007
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2013 2018
dbSNP: rs191547831
rs191547831
SLC26A3
1 7 107772054 missense variant C/G snv 8.4E-04 8.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs2631367
rs2631367
SLC22A5 ; MIR3936HG
4 0.925 0.120 5 132369766 5 prime UTR variant C/G snv 0.59 0.010 < 0.001 1 2015 2015
dbSNP: rs6165
rs6165
FSHR
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.030 0.333 3 2011 2015
dbSNP: rs1646022
rs1646022
PRM2 ; RMI2 ; LOC105371082
1 16 11276073 intron variant C/G;T snv 0.37 0.020 1.000 2 2017 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 0.500 2 2006 2012
dbSNP: rs2292596
rs2292596
AHRR
7 0.827 0.240 5 422840 missense variant C/G;T snv 0.38; 4.0E-06 0.020 1.000 2 2004 2019
dbSNP: rs1259503
rs1259503 		1 10 75232686 downstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs6080550
rs6080550
LOC100289473
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs6124715
rs6124715
EPPIN ; EPPIN-WFDC6
1 20 45548848 upstream gene variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6166
rs6166
FSHR
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.060 0.500 6 2011 2017
dbSNP: rs188541504
rs188541504
THEG
3 0.925 0.040 19 374362 missense variant C/T snv 8.0E-05 4.9E-05 0.030 1.000 3 2012 2018
dbSNP: rs28368082
rs28368082
SPO11
1 20 57335452 missense variant C/T snv 5.7E-05 0.030 1.000 3 2011 2017