Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61754966
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.720 1.000 2 2013 2014
dbSNP: rs1805794
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2011 2015
dbSNP: rs34767364
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2001 2006
dbSNP: rs2735383
rs2735383
OSGIN2 ; NBN
0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 < 0.001 1 2011 2011