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: rs12548939
rs12548939
2 8 127946525 intron variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs66824612
rs66824612
1 8 127955573 intron variant C/T snv 0.29 0.700 1.000 1 2019 2019