Source: CURATED ×
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: rs61754966
rs61754966
NBN
2 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.720 1.000 0 2013 2014
dbSNP: rs12721593
rs12721593
NBN
1 1.000 0.120 8 89981417 missense variant G/A snv 5.8E-04 1.2E-04 0.700 0
dbSNP: rs61753720
rs61753720
NBN
1 1.000 0.120 8 89981412 missense variant C/A;G;T snv 1.7E-03 1.8E-03 0.700 0