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: rs121908377
rs121908377
3 1.000 0.120 7 114662075 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1800562
rs1800562
230 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs2066845
rs2066845
43 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs398122820
rs398122820
B2M
6 0.790 0.240 15 44715641 missense variant G/A snv 0.010 1.000 1 2018 2018