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: rs375072557
rs375072557
2 0.925 0.200 9 123371419 stop gained G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs765676223
rs765676223
2 0.925 0.200 9 123371542 missense variant C/A;G;T snv 1.6E-05; 2.3E-04 0.010 1.000 1 2015 2015