TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Disease: REVESZ SYNDROME (disorder) ×
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: rs121918544
rs121918544 		0.827 0.200 14 24240635 missense variant C/T snv
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.810 1.000 1 2008 2008
dbSNP: rs1060499576
rs1060499576 		0.925 0.080 14 24242252 stop gained G/T snv
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918543
rs121918543 		0.882 0.200 14 24240642 stop gained T/A;C snv
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
REVESZ SYNDROME (disorder) 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2008 2008