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: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.020 1.000 2 2016 2019
dbSNP: rs1273925499
rs1273925499
3 0.882 0.080 17 45991557 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2001 2001