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: rs2452600
rs2452600
1 0.925 0.080 4 94575731 missense variant C/T snv 0.27 0.25 0.700 1.000 1 2018 2018