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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs12342
rs12342
4 0.851 0.240 12 1787714 3 prime UTR variant C/A;T snv 0.010 1.000 1 2014 2014