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 0.050 1.000 5 2008 2017
dbSNP: rs2494752
rs2494752
10 0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 0.030 1.000 3 2017 2018
dbSNP: rs2498794
rs2498794
2 14 104778914 intron variant A/G snv 0.54 0.010 1.000 1 2015 2015