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: rs13306425
rs13306425
1 1.000 0.040 16 67435802 missense variant G/A snv 2.0E-04 1.8E-04 0.010 1.000 1 2006 2006
dbSNP: rs370615893
rs370615893
1 1.000 0.040 16 67436789 missense variant G/A;C snv 1.2E-05 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs45483293
rs45483293
2 1.000 0.040 16 67436012 synonymous variant G/A snv 3.1E-02 2.9E-02 0.010 1.000 1 2000 2000