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: rs28931586
rs28931586
1 1.000 0.120 20 46122349 missense variant T/C snv 0.800 1.000 2 2001 2016
dbSNP: rs1568905451
rs1568905451
1 1.000 0.120 20 46121863 inframe deletion TAA/- delins 0.700 0
dbSNP: rs1568906348
rs1568906348
1 1.000 0.120 20 46122608 splice acceptor variant A/T snv 0.700 0