TERF2, telomeric repeat binding factor 2, 7014

N. diseases: 125; N. variants: 4
Disease: Nijmegen Breakage Syndrome ×
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: rs913202196
rs913202196 		1.000 0.040 16 69368452 missense variant C/A;T snv 4.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2003 2003