Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519902
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.740 1.000 1 2013 2017
dbSNP: rs1057519903
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.720 1.000 1 2013 2016
dbSNP: rs1276519904
rs1276519904
H3-3A
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
H3-3A
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: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 12 1997 2015
dbSNP: rs1057519902
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519902
rs1057519902
H3-3A
0.742 0.160 1 226064451 missense variant G/C snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903
H3-3A
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C2607947
Disease: Unilateral deafness
Unilateral deafness 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0023380
Disease: Lethargy
Lethargy 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0