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: rs1635501
rs1635501
1 1 241877473 intron variant C/T snv 0.54 0.800 1.000 1 2012 2012
dbSNP: rs1635506
rs1635506
1 1 241865502 intron variant T/C snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs2236918
rs2236918
1 1 241854524 intron variant C/G snv 0.62 0.700 1.000 1 2015 2015