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: rs117245733
rs117245733
2 1.000 13 40149807 intron variant G/A snv 1.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs6563812
rs6563812
2 1.000 13 40269668 intron variant C/G;T snv 0.700 1.000 1 2019 2019