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: rs2275247
rs2275247
2 0.925 0.080 1 35442850 intron variant T/C snv 0.26 0.800 1.000 1 2013 2013