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: rs104893662
rs104893662
SLC40A1
4 0.851 0.080 2 189571799 missense variant T/A;G snv 0.800 1.000 13 2000 2005
dbSNP: rs104893663
rs104893663
SLC40A1
1 1.000 0.080 2 189571759 missense variant T/A;C snv 0.800 1.000 13 2000 2005
dbSNP: rs104893664
rs104893664
SLC40A1
2 0.925 0.080 2 189564186 missense variant C/T snv 4.4E-05 0.800 1.000 13 2000 2005
dbSNP: rs104893670
rs104893670
SLC40A1
1 1.000 0.080 2 189565568 missense variant C/A;T snv 1.2E-05 0.800 1.000 13 2000 2005
dbSNP: rs104893671
rs104893671
SLC40A1
1 1.000 0.080 2 189564018 missense variant C/A snv 0.800 1.000 13 2000 2005
dbSNP: rs104893672
rs104893672
SLC40A1
1 1.000 0.080 2 189565572 missense variant T/A snv 0.800 1.000 13 2000 2005
dbSNP: rs104893673
rs104893673
SLC40A1
2 0.925 0.080 2 189575193 missense variant C/A snv 0.800 1.000 13 2000 2005
dbSNP: rs28939076
rs28939076
SLC40A1
1 1.000 0.080 2 189575202 missense variant G/T snv 0.800 1.000 13 2000 2005
dbSNP: rs368420430
rs368420430
SLC40A1
4 0.851 0.080 2 189564177 missense variant T/A;G snv 5.2E-05; 8.0E-06 0.800 1.000 1 2012 2012
dbSNP: rs387907377
rs387907377
SLC40A1
3 0.882 0.080 2 189565504 missense variant C/T snv 8.0E-06 0.700 1.000 3 2011 2013
dbSNP: rs1423207026
rs1423207026
SLC40A1
2 0.925 0.080 2 189571755 missense variant C/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1060501102
rs1060501102
SLC40A1
1 1.000 0.080 2 189562125 missense variant C/T snv 0.700 0
dbSNP: rs1285653301
rs1285653301
SLC40A1
1 1.000 0.080 2 189575242 missense variant A/T snv 0.700 0
dbSNP: rs1434101655
rs1434101655
SLC40A1
1 1.000 0.080 2 189571798 missense variant T/G snv 0.700 0
dbSNP: rs1553492997
rs1553492997
SLC40A1
1 1.000 0.080 2 189562113 missense variant C/T snv 0.700 0
dbSNP: rs1553493234
rs1553493234
SLC40A1
1 1.000 0.080 2 189563937 missense variant G/T snv 0.700 0
dbSNP: rs1553493479
rs1553493479
SLC40A1
1 1.000 0.080 2 189565570 missense variant G/C snv 0.700 0
dbSNP: rs1553493481
rs1553493481
SLC40A1
1 1.000 0.080 2 189565573 missense variant C/T snv 0.700 0
dbSNP: rs1553494286
rs1553494286
SLC40A1
1 1.000 0.080 2 189571750 missense variant A/G snv 0.700 0
dbSNP: rs1553495699
rs1553495699
SLC40A1
1 1.000 0.080 2 189580665 5 prime UTR variant T/G snv 0.700 0
dbSNP: rs1445492598
rs1445492598
SLC40A1
2 0.925 0.080 2 189562128 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1458641771
rs1458641771
TFR2
2 0.925 0.080 7 100632146 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs202011978
rs202011978
HJV
2 0.925 0.080 1 146019446 missense variant G/A snv 4.7E-05 2.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs387907376
rs387907376
SLC40A1
1 1.000 0.080 2 189565561 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs4986950
rs4986950
HFE ; LOC108783645
2 0.925 0.080 6 26092718 missense variant C/T snv 1.3E-04 7.0E-06 0.010 1.000 1 2014 2014