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: rs6688832
rs6688832
H6PD
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2005 2007
dbSNP: rs17368528
rs17368528
H6PD
5 0.827 0.400 1 9264154 missense variant C/A;T snv 0.12 8.9E-02 0.010 1.000 1 2010 2010