H3-3A, H3.3 histone A, 3020

N. diseases: 134; N. variants: 4
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: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0234146
Disease: Absent reflex
Absent reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		Neoplasms; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.030 1.000 3 2016 2017
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0004106
Disease: Astigmatism
Astigmatism 		Eye Diseases 0.700 0
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0334587
Disease: Astroblastoma
Astroblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1553260624
rs1553260624 		0.763 0.080 1 226064454 missense variant G/A snv
CUI: C0334587
Disease: Astroblastoma
Astroblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.720 1.000 3 2013 2016
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.700 0
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4021830
Disease: Bilateral camptodactyly
Bilateral camptodactyly 		0.700 0
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.020 0.500 2 2018 2019
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1332610
Disease: Brain Stem Glioblastoma
Brain Stem Glioblastoma 		0.010 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902 		0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0007762
Disease: Cerebellar Neoplasms
Cerebellar Neoplasms 		Neoplasms; Nervous System Diseases 0.020 1.000 2 2017 2018
dbSNP: rs1276519904
rs1276519904 		0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4022908
Disease: Cerebral white matter hypoplasia
Cerebral white matter hypoplasia 		0.700 0
dbSNP: rs1057519903
rs1057519903 		0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma 		Neoplasms 0.020 1.000 2 2018 2018