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: rs111698934
rs111698934
1 1.000 0.040 3 172315221 intron variant C/G snv 5.7E-03 0.010 < 0.001 1 2019 2019
dbSNP: rs6445055
rs6445055
4 0.925 0.040 3 172274597 intron variant G/A snv 0.24 0.010 1.000 1 2014 2014