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: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2494732
rs2494732
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.010 1.000 1 2017 2017
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2017 2017