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: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2004 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2005 2010
dbSNP: rs1355384700
rs1355384700
SEMA4D
1 1.000 0.080 9 89405447 missense variant A/C snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs35152987
rs35152987
HBD
4 0.925 0.080 11 5234352 missense variant C/A;T snv 2.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs35424040
rs35424040
HBB
6 0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2019 2019