Source: ALL
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: rs2269432
rs2269432
HYAL3 ; NAA80
3 0.882 0.120 3 50296800 missense variant T/A;G snv 0.13 0.010 1.000 1 2004 2004