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: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.030 1.000 3 2006 2012
dbSNP: rs1060503460
rs1060503460
NBN
2 0.925 0.200 8 89955461 missense variant A/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1061302
rs1061302
NBN
5 0.827 0.160 8 89946194 synonymous variant T/C snv 0.35 0.30 0.010 1.000 1 2014 2014
dbSNP: rs13312840
rs13312840
NBN
3 0.882 0.120 8 89985681 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs746965070
rs746965070
NBN
5 0.827 0.200 8 89955487 missense variant T/C snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs778998026
rs778998026
NBN
2 0.925 0.200 8 89981502 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs779346343
rs779346343
NBN
2 0.925 0.200 8 89970379 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006