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: rs10020432
rs10020432
AFP
2 0.925 0.080 4 73455883 3 prime UTR variant A/G snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs10053538
rs10053538
HAVCR2
7 0.807 0.160 5 157110499 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1012068
rs1012068
DEPDC5
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.020 1.000 2 2014 2016
dbSNP: rs10146249
rs10146249
ATXN3
1 1.000 0.080 14 92074996 intron variant C/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs10204525
rs10204525
PDCD1
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1041740
rs1041740
SOD1
8 0.807 0.320 21 31667849 intron variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs10433937
rs10433937
HSD17B13
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1049305
rs1049305
AQP1
4 0.925 0.160 7 30924207 3 prime UTR variant G/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs1054690270
rs1054690270
GPT ; LOC101928953
5 0.827 0.160 8 144505907 frameshift variant CT/- delins 0.010 1.000 1 2018 2018
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1059122
rs1059122
FAM13A ; FAM13A-AS1
3 0.882 0.160 4 88726273 3 prime UTR variant T/A snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs10932029
rs10932029
ICOS ; LOC101927840
5 0.827 0.200 2 203937045 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs10945859
rs10945859
PRKN
3 0.882 0.120 6 162721570 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs11003123
rs11003123
MBL2
6 0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs1127354
rs1127354
ITPA
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1140409
rs1140409
DDX5 ; MIR3064
2 0.925 0.080 17 64500552 missense variant A/C snv 5.4E-02 5.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.020 1.000 2 2003 2006
dbSNP: rs1161457931
rs1161457931
TMPRSS6
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 1.000 2 2017 2017
dbSNP: rs11977021
rs11977021 		5 0.827 0.240 7 106288069 upstream gene variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs1201810520
rs1201810520
EIF2AK3
2 0.925 0.160 2 88590497 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
dbSNP: rs1208663703
rs1208663703
TMPRSS6
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12104272
rs12104272
SCAF1
2 0.925 0.080 19 49644795 intron variant G/A snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009