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: rs267607201
rs267607201
KLF1
7 0.807 0.120 19 12885001 missense variant C/T snv 0.060 1.000 6 2013 2020
dbSNP: rs942517370
rs942517370
CD44
2 0.925 0.080 11 35201757 missense variant G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2013 2019
dbSNP: rs104894324
rs104894324
AICDA
3 0.882 0.120 12 8606951 missense variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1160011059
rs1160011059
KLF1
1 1.000 0.080 19 12887101 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1182452266
rs1182452266
GYG1
3 0.882 0.120 3 149026904 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121918222
rs121918222
SEC23B
3 0.882 0.080 20 18510875 missense variant C/T snv 2.3E-04 1.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs1260625356
rs1260625356
ATP8A1
1 1.000 0.080 4 42579840 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1327650371
rs1327650371
GSR
1 1.000 0.080 8 30684181 missense variant T/C snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143864225
rs143864225
GPI
1 1.000 0.080 19 34393941 missense variant G/A snv 1.2E-05 2.1E-05 0.010 1.000 1 2019 2019
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 1.000 1 2000 2000
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2012 2012
dbSNP: rs750888081
rs750888081
SEC23B
1 1.000 0.080 20 18526476 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs80338699
rs80338699
CDAN1
2 0.925 0.080 15 42725550 missense variant G/A snv 1.6E-05 6.3E-05 0.010 1.000 1 2014 2014