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: rs10900586
rs10900586
2 1 203684957 intron variant G/A snv 0.83 0.700 1.000 1 2017 2017
dbSNP: rs1419114
rs1419114
3 1 203683316 synonymous variant A/G snv 0.88 0.83 0.700 1.000 1 2019 2019
dbSNP: rs4951378
rs4951378
4 1 203689654 intron variant A/G snv 0.83 0.700 1.000 1 2016 2016