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: rs138249161
rs138249161
8 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs775141057
rs775141057
6 0.882 0.120 12 106496115 missense variant C/A;T snv 4.0E-06 2.1E-05 0.700 0