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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 12 1997 2015
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 12 1997 2015
dbSNP: rs1276519904
rs1276519904
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 12 1997 2015
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.100 1.000 11 2013 2019
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.080 1.000 8 2013 2018
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.060 1.000 6 2012 2020
dbSNP: rs1057519902
rs1057519902
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.740 1.000 5 2013 2017
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0017638
Disease: Glioma
Glioma
Neoplasms 0.050 0.800 5 2016 2020
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
Neoplasms 0.050 1.000 5 2013 2017
dbSNP: rs1553260624
rs1553260624
0.763 0.080 1 226064454 missense variant G/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.040 1.000 4 2013 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: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
Neoplasms 0.030 1.000 3 2016 2017
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
0.700 1.000 3 2012 2013
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: rs1553260624
rs1553260624
0.763 0.080 1 226064454 missense variant G/A snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
0.700 1.000 3 2012 2013
dbSNP: rs1057519902
rs1057519902
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
Neoplasms 0.020 1.000 2 2013 2013
dbSNP: rs1057519902
rs1057519902
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2012 2017
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
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: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma
Neoplasms 0.020 1.000 2 2018 2018
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: rs1553260624
rs1553260624
0.763 0.080 1 226064454 missense variant G/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
Neoplasms 0.020 1.000 2 2013 2013
dbSNP: rs1553260624
rs1553260624
0.763 0.080 1 226064454 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2012 2017
dbSNP: rs1057519902
rs1057519902
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0206638
Disease: Giant Cell Tumor of Bone
Giant Cell Tumor of Bone
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519902
rs1057519902
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019