TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Aplastic Anemia ×
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: rs121918661
rs121918661 		0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2009
dbSNP: rs121918662
rs121918662 		0.882 0.120 5 1279341 missense variant C/T snv 7.0E-06
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2009
dbSNP: rs483352771
rs483352771 		1.000 0.040 5 1272213 missense variant G/A;C;T snv 4.0E-06; 1.2E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 1.000 4 2005 2009
dbSNP: rs149566858
rs149566858 		1.000 0.040 5 1278750 missense variant G/A snv 5.2E-05 6.3E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422294
rs199422294 		0.827 0.160 5 1280216 missense variant C/T snv
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199422295
rs199422295 		0.882 0.120 5 1279376 missense variant C/T snv
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs34094720
rs34094720 		0.882 0.040 5 1293652 missense variant G/A;T snv 3.3E-03; 6.0E-06
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		Hemic and Lymphatic Diseases 0.700 0