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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs1979654
rs1979654 		2 0.925 0.080 16 86363229 TF binding site variant G/C snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs2178146
rs2178146 		8 0.827 0.080 16 86430089 downstream gene variant T/C snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs2297518
rs2297518
NOS2
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 < 0.001 1 2008 2008
dbSNP: rs2409797
rs2409797
LINC00208
1 1.000 0.080 8 11576271 non coding transcript exon variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs2464469
rs2464469
ALDH1A2 ; LOC283665
2 0.925 0.080 15 58069827 intron variant G/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs2518720
rs2518720
CDKN2A
2 0.925 0.080 9 21978980 intron variant C/T snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs2671828
rs2671828 		1 1.000 0.080 17 35404745 upstream gene variant T/C snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs2687202
rs2687202 		2 0.925 0.080 3 70880832 regulatory region variant T/C snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs3776082
rs3776082 		1 1.000 0.080 5 150164482 upstream gene variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs3776083
rs3776083
SLC6A7
1 1.000 0.080 5 150188407 upstream gene variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3812863
rs3812863
CDX2
1 1.000 0.080 13 27971131 upstream gene variant G/A snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs4676893
rs4676893 		3 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs4769585
rs4769585 		1 1.000 0.080 13 27976441 downstream gene variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs4800353
rs4800353 		5 0.925 0.080 18 22074176 intergenic variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2010 2010
dbSNP: rs491603
rs491603
AGO3
2 1.000 0.080 1 36066715 3 prime UTR variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2010 2010
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs62423175
rs62423175 		2 0.925 0.080 6 61485463 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs6449586
rs6449586 		1 1.000 0.080 5 51339044 intergenic variant C/T snv 0.64 0.800 1.000 1 2013 2013
dbSNP: rs717746
rs717746
CDX1
1 1.000 0.080 5 150176995 intron variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs7255
rs7255
GDF7
3 0.925 0.080 2 20679060 3 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016