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: rs13112725
rs13112725
2 4 105990585 intron variant G/C snv 0.70 0.700 1.000 4 2017 2018
dbSNP: rs56388530
rs56388530
2 4 105989801 intron variant C/A;T snv 0.700 1.000 2 2019 2019