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: rs478597
rs478597
2 1.000 0.040 12 117313620 intron variant G/A snv 0.35 0.020 1.000 2 2016 2016