TELO2, telomere maintenance 2, 9894

N. diseases: 37; N. variants: 7
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: rs202020308
rs202020308 		1.000 16 1500444 missense variant G/T snv 1.8E-04 1.5E-04
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.800 1.000 1 2016 2016
dbSNP: rs369656775
rs369656775 		1.000 16 1497457 missense variant C/T snv 7.0E-06
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.800 1.000 1 2016 2016
dbSNP: rs371675497
rs371675497 		1.000 16 1507605 missense variant G/A snv 1.2E-04 9.8E-05
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.800 1.000 1 2016 2016
dbSNP: rs754162070
rs754162070 		1.000 16 1502986 missense variant G/A;T snv 8.0E-06
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.800 1.000 1 2016 2016
dbSNP: rs878853271
rs878853271 		1.000 16 1506984 missense variant A/T snv 1.2E-05 2.8E-05
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.800 1.000 1 2016 2016
dbSNP: rs2745106
rs2745106 		1.000 0.120 16 1491460 upstream gene variant C/T snv 0.10
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs142217951
rs142217951 		1.000 16 1502932 missense variant T/G snv 4.8E-05 3.5E-05
CUI: C4310778
Disease: YOU-HOOVER-FONG SYNDROME
YOU-HOOVER-FONG SYNDROME 		0.700 0