NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1805794
rs1805794
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2735383
rs2735383
0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.010 1.000 1 2013 2013