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: rs142094773
rs142094773
1 1.000 0.040 19 11378049 missense variant G/A snv 7.7E-03 5.3E-03 0.010 1.000 1 1996 1996
dbSNP: rs62638745
rs62638745
3 0.882 0.080 19 11378051 missense variant T/C snv 6.3E-03 6.2E-03 0.010 1.000 1 1996 1996