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: rs786205448
rs786205448
3 1.000 0.040 1 156138563 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs137853973
rs137853973
2 0.925 0.160 16 58002623 stop gained G/A snv 1.2E-05 0.010 1.000 1 2012 2012