TRNT1, tRNA nucleotidyl transferase 1, 51095

N. diseases: 40; N. variants: 15
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: rs370011798
rs370011798 		1.000 3 3146489 missense variant T/C snv 3.2E-05 7.7E-05
CUI: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.810 1.000 2 2014 2018
dbSNP: rs606231287
rs606231287 		1.000 3 3144671 missense variant G/C;T snv 4.2E-06
CUI: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.810 1.000 1 2018 2018
dbSNP: rs606231289
rs606231289 		1.000 3 3144599 missense variant T/C snv 4.2E-06
CUI: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.810 1.000 1 2018 2018
dbSNP: rs606231290
rs606231290 		1.000 3 3140628 missense variant C/T snv 7.0E-06
CUI: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.810 1.000 1 2018 2018
dbSNP: rs797045036
rs797045036 		0.925 0.160 3 3151023 missense variant A/G snv
CUI: C1843942
Disease: Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Recessive 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2016 2016
dbSNP: rs199931785
rs199931785 		1.000 3 3148095 missense variant A/G snv 5.6E-05 3.5E-05
CUI: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.700 1.000 1 2014 2014
dbSNP: rs121918368
rs121918368 		0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1843942
Disease: Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Recessive 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs606231291
rs606231291 		1.000 3 3147991 stop gained -/ATGT ins
CUI: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.700 0
dbSNP: rs771781629
rs771781629 		1.000 3 3140639 missense variant A/C;G;T snv 4.0E-06; 1.6E-05; 4.0E-06
CUI: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.700 0
dbSNP: rs876661297
rs876661297 		1.000 3 3129166 inframe deletion AAG/- delins
CUI: C4310776
Disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		0.700 0
dbSNP: rs876661298
rs876661298 		0.925 3 3148095 frameshift variant A/-;AA delins
CUI: C4310776
Disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		0.700 0
dbSNP: rs876661298
rs876661298 		0.925 3 3148095 frameshift variant A/-;AA delins
CUI: C4015172
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.700 0
dbSNP: rs876661299
rs876661299 		1.000 3 3146404 intron variant T/C snv 8.5E-06
CUI: C4310776
Disease: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		0.700 0
dbSNP: rs121918368
rs121918368 		0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.030 1.000 3 2008 2015
dbSNP: rs121918368
rs121918368 		0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.020 1.000 2 2008 2013
dbSNP: rs1045433
rs1045433 		1.000 0.160 3 3149742 non coding transcript exon variant T/C snv 0.15
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1620675
rs1620675 		1.000 0.120 3 3151243 intron variant T/G snv 0.52
CUI: C0432365
Disease: Thalidomide embryopathy syndrome
Thalidomide embryopathy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs1714327
rs1714327 		1.000 0.040 3 3147230 intron variant C/G snv 0.53
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2019 2019
dbSNP: rs797045036
rs797045036 		0.925 0.160 3 3151023 missense variant A/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017