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: rs17695224
rs17695224
2 19 51820963 intron variant G/A;C snv 0.800 1.000 3 2013 2019
dbSNP: rs28873836
rs28873836
2 19 51811402 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs74256604
rs74256604
1 19 51800816 intron variant G/A snv 0.12 0.700 1.000 1 2018 2018