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: rs121912745
rs121912745
9 0.807 0.200 17 44255708 missense variant G/A;T snv 0.700 0
dbSNP: rs75731670
rs75731670
1 17 44254581 missense variant C/G;T snv 8.0E-06; 2.0E-04 0.700 0