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: rs371465450
rs371465450
1 1.000 0.120 12 80255183 stop gained C/T snv 4.5E-05 7.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs757774496
rs757774496
1 1.000 0.120 12 80279038 stop gained C/A;T snv 3.4E-05 4.2E-05 0.010 1.000 1 2013 2013