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: rs77375493
rs77375493
3 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.900 0.966 1 2005 2019
dbSNP: rs121912472
rs121912472
1 0.925 0.080 9 5073742 missense variant G/C snv 0.810 1.000 3 2006 2019