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: rs28936700
rs28936700
9 0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04 0.700 0
dbSNP: rs72549387
rs72549387
7 0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04 0.700 0