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: rs34801745
rs34801745
1 3 196388626 intron variant G/C snv 0.36 0.700 1.000 1 2019 2019
dbSNP: rs6583310
rs6583310
1 3 196444114 regulatory region variant G/C snv 0.54 0.700 1.000 1 2019 2019