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: rs387906980
rs387906980
6 0.807 0.200 4 39231943 missense variant T/C snv 1.2E-05 2.8E-05 0.800 1.000 1 2011 2011
dbSNP: rs387906981
rs387906981
2 0.925 0.120 4 39268040 stop gained C/A;T snv 4.3E-06; 1.3E-05 0.700 0