DNMT3A, DNA methyltransferase 3 alpha, 1788

N. diseases: 350; N. variants: 56
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: rs1553414406
rs1553414406 		1.000 0.160 2 25248157 frameshift variant A/- del
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553412022
rs1553412022 		1.000 0.160 2 25243967 frameshift variant A/-;AA delins
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs979932565
rs979932565 		1.000 0.160 2 25239205 missense variant A/C snv 7.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587777507
rs587777507 		1.000 0.160 2 25241701 missense variant A/G snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2017
dbSNP: rs587777510
rs587777510 		1.000 0.160 2 25234313 missense variant A/G snv 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 3 2014 2017
dbSNP: rs11694842
rs11694842 		2 25260101 intron variant A/G snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2015 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2019
dbSNP: rs11694842
rs11694842 		2 25260101 intron variant A/G snv 0.22
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C2242595
Disease: Mucosal atrophy
Mucosal atrophy 		0.010 < 0.001 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs13428812
rs13428812 		0.827 0.120 2 25269598 intron variant A/G snv 0.31
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs79478703
rs79478703 		2 25235984 intron variant A/G snv 4.8E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2015 2016
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0850666
Disease: Infection caused by Helicobacter pylori
Infection caused by Helicobacter pylori 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs1550117
rs1550117 		0.790 0.320 2 25343038 upstream gene variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015