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: rs17819973
rs17819973
1 17 56120936 intron variant T/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs28519449
rs28519449
2 17 56118092 intron variant C/T snv 0.34 0.700 1.000 1 2019 2019