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: rs538874513
rs538874513
6 0.807 0.120 1 3730017 missense variant C/G;T snv 8.2E-06; 8.2E-06 0.010 1.000 1 2001 2001
dbSNP: rs749098599
rs749098599
4 0.882 0.080 1 3683085 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2001 2001