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: rs8050500
rs8050500
2 16 31393250 upstream gene variant T/C snv 0.45 0.700 1.000 3 2016 2019