NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: melanoma ×
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: rs1063045
rs1063045 		1.000 0.040 8 89982791 synonymous variant C/T snv 0.35 0.33
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs34767364
rs34767364 		0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs867185
rs867185 		1.000 0.040 8 89962922 intron variant G/A snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs9995
rs9995 		1.000 0.040 8 89933828 3 prime UTR variant A/G snv 0.32
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2007 2007