Gene: NBN ×
Source: CLINVAR ×
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: rs767454740
rs767454740
NBN
4 0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1554568427
rs1554568427
NBN
2 0.925 0.240 8 89981520 stop gained G/A snv 0.700 0