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: rs199696526
rs199696526
3 0.882 0.040 16 4786006 missense variant G/A snv 1.2E-04 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs371195126
rs371195126
3 0.882 0.040 16 4783690 missense variant C/G;T snv 2.4E-05 0.010 1.000 1 2012 2012