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: rs30461
rs30461
5 0.827 0.120 19 39298475 missense variant A/G snv 0.13 0.25 0.020 < 0.001 2 2012 2019