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: rs2269906
rs2269906
UBTF ; LOC101926967
1 17 44216969 intron variant A/C snv 0.52 0.800 1.000 2 2012 2017
dbSNP: rs228918
rs228918
TMPRSS6
3 22 37110640 upstream gene variant T/C snv 0.40 0.800 1.000 2 2012 2016
dbSNP: rs2608604
rs2608604
PIEZO1
1 16 88783013 intron variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs3218097
rs3218097
CCND3
5 6 41937537 intron variant G/A;T snv 0.800 1.000 2 2012 2017
dbSNP: rs346522
rs346522 		2 19 43758393 upstream gene variant A/G snv 0.33 0.800 1.000 2 2012 2018
dbSNP: rs3804139
rs3804139
TFRC
2 3 196080754 intron variant T/C snv 0.49 0.800 1.000 2 2012 2018
dbSNP: rs4737009
rs4737009
ANK1
3 1.000 0.080 8 41772887 intron variant G/A snv 0.33 0.800 1.000 2 2012 2017
dbSNP: rs6459467
rs6459467
GMPR
3 6 16287961 intron variant G/A;C snv 0.800 1.000 2 2012 2016
dbSNP: rs7551442
rs7551442
ATP2B4
1 1 203685993 intron variant A/C;G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs8176746
rs8176746
ABO
12 0.882 0.160 9 133255935 missense variant G/A;T snv 4.1E-06; 0.12 0.800 1.000 2 2010 2012
dbSNP: rs8176749
rs8176749
ABO
7 1.000 0.040 9 133255801 synonymous variant C/T snv 0.12 0.11 0.800 1.000 2 2012 2018
dbSNP: rs857684
rs857684
OR10Z1
2 1 158605939 intron variant C/T snv 0.24 0.800 1.000 2 2012 2017
dbSNP: rs857721
rs857721
SPTA1
2 1 158642758 intron variant T/A;C snv 0.800 1.000 2 2009 2012
dbSNP: rs8887
rs8887
HDGFL2 ; PLIN4
7 1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05 0.800 1.000 2 2012 2016
dbSNP: rs9325434
rs9325434
LOC105374303
2 3 196194440 downstream gene variant G/A snv 0.13 0.800 1.000 2 2012 2016
dbSNP: rs9373124
rs9373124
HBS1L
3 6 135102071 intron variant T/C snv 0.33 0.800 1.000 2 2009 2012
dbSNP: rs9376090
rs9376090
HBS1L
7 6 135090090 intron variant T/C snv 0.19 0.800 1.000 2 2012 2017
dbSNP: rs9901595
rs9901595 		1 17 44228331 downstream gene variant G/A snv 0.45 0.800 1.000 2 2012 2018
dbSNP: rs1050828
rs1050828
G6PD
15 0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02 0.700 1.000 2 2013 2013
dbSNP: rs13008603
rs13008603
PRKCE
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 2 2012 2013
dbSNP: rs17342717
rs17342717
SLC17A1
8 6 25821542 intron variant C/T snv 6.1E-02 0.700 1.000 2 2010 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.700 1.000 2 2010 2012
dbSNP: rs2213169
rs2213169
HBE1 ; HBG2
4 11 5281833 intron variant G/A;T snv 4.2E-02 0.700 1.000 2 2013 2019
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 2 2019 2019
dbSNP: rs4896131
rs4896131
HBS1L
1 6 135070962 intron variant C/A snv 0.56 0.700 1.000 2 2016 2018