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: rs749918573
rs749918573
NBN
2 0.925 0.200 8 89953375 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004