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: rs8133843
rs8133843
1 1.000 0.120 21 35365944 intron variant G/A snv 0.65 0.800 1.000 1 2014 2019
dbSNP: rs9979383
rs9979383
1 0.925 0.200 21 35343463 intron variant C/G;T snv 0.800 1.000 1 2012 2016