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: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.800 1.000 8 2009 2018
dbSNP: rs4820268
rs4820268
TMPRSS6
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.800 1.000 3 2009 2017
dbSNP: rs10495928
rs10495928
PRKCE
5 2 46126027 intron variant A/G snv 0.36 0.800 1.000 2 2009 2016
dbSNP: rs16926246
rs16926246
HK1
4 10 69333636 intron variant C/T snv 0.12 0.800 1.000 2 2009 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.800 1.000 2 2009 2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.800 1.000 2 2009 2012
dbSNP: rs198846
rs198846
H1-6
7 6 26107235 downstream gene variant A/G;T snv 0.800 1.000 2 2009 2017
dbSNP: rs2413450
rs2413450
TMPRSS6
6 22 37074184 intron variant T/C snv 0.61 0.800 1.000 2 2009 2017
dbSNP: rs10224002
rs10224002
PRKAG2
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.800 1.000 1 2009 2009
dbSNP: rs11065987
rs11065987 		17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 1 2009 2009
dbSNP: rs6013509
rs6013509 		2 20 52701812 downstream gene variant G/A;C snv 0.800 1.000 1 2009 2009
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 3 2012 2017
dbSNP: rs218237
rs218237 		6 4 54528005 intergenic variant C/T snv 0.18 0.700 1.000 2 2010 2017
dbSNP: rs495828
rs495828 		24 0.827 0.200 9 133279294 upstream gene variant T/G snv 0.81 0.700 1.000 2 2010 2017
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.700 1.000 2 2010 2018
dbSNP: rs833805
rs833805
LOC101929705
3 6 44062274 non coding transcript exon variant A/G snv 0.92 0.700 1.000 2 2016 2018
dbSNP: rs1010269
rs1010269
BCAS3
1 17 61371584 intron variant A/G snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs10159477
rs10159477
HK1
3 10 69340132 intron variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10168349
rs10168349
PRKCE
4 2 46133768 intron variant G/C snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs1037814
rs1037814
AFF1
3 4 87128698 intron variant T/C snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs10480300
rs10480300
PRKAG2
6 0.925 0.120 7 151708919 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs10494964
rs10494964
LOC105372912
2 1 213793544 intron variant T/C snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs10899133
rs10899133
UVRAG
1 11 75820650 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10901252
rs10901252
ABO
3 9 133252613 non coding transcript exon variant G/C snv 0.11 0.700 1.000 1 2016 2016