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: rs8051542
rs8051542
2 0.925 0.080 16 52500255 intron variant T/C snv 0.61 0.070 0.857 7 2010 2019