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: rs121434593
rs121434593
1 1.000 0.080 19 40237979 missense variant C/T snv 0.800 1.000 4 2004 2013
dbSNP: rs2304186
rs2304186
2 0.925 0.160 19 40233814 3 prime UTR variant G/T snv 0.39 0.010 < 0.001 1 2011 2011