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: rs587777625
rs587777625
1 1.000 12 56235666 missense variant T/C;G snv 4.0E-06 0.800 1.000 2 2014 2014
dbSNP: rs199624584
rs199624584
2 0.925 0.040 12 56231415 stop gained C/A;G;T snv 2.4E-05; 4.0E-06; 1.6E-05; 2.4E-05 0.700 0