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: rs121918799
rs121918799
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs1253956567
rs1253956567
2 1.000 0.040 2 166038072 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2014 2014