DNMT3B, DNA methyltransferase 3 beta, 1789

N. diseases: 315; N. variants: 38
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: rs121908941
rs121908941 		0.925 0.080 20 32802416 missense variant T/G snv 1.2E-05 2.1E-05
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 7 1999 2013
dbSNP: rs121908941
rs121908941 		0.925 0.080 20 32802416 missense variant T/G snv 1.2E-05 2.1E-05
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 7 1999 2016
dbSNP: rs4911259
rs4911259 		20 32788476 intron variant T/G snv 0.42
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs121908944
rs121908944 		1.000 0.080 20 32805343 missense variant T/G snv
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs6087990
rs6087990 		0.925 0.080 20 32762102 upstream gene variant T/C;G snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2016
dbSNP: rs6087990
rs6087990 		0.925 0.080 20 32762102 upstream gene variant T/C;G snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2016
dbSNP: rs6087990
rs6087990 		0.925 0.080 20 32762102 upstream gene variant T/C;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs6087990
rs6087990 		0.925 0.080 20 32762102 upstream gene variant T/C;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs121908947
rs121908947 		1.000 0.080 20 32789007 missense variant T/C snv
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 7 1999 2016
dbSNP: rs1391383394
rs1391383394 		20 32791692 missense variant T/C snv 7.0E-06
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2424909
rs2424909 		20 32774055 intron variant T/C snv 0.57
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs867732105
rs867732105 		1.000 0.080 20 32800210 missense variant T/C snv 4.0E-06
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs992472
rs992472 		20 32797463 intron variant G/T snv 0.49
CUI: C0020175
Disease: Hunger
Hunger 		Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs1191203668
rs1191203668 		1.000 0.080 20 32805402 missense variant G/C snv 4.0E-06
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs121908940
rs121908940 		0.925 0.120 20 32807793 missense variant G/A;T snv 2.8E-05; 1.2E-05
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 8 1999 2016
dbSNP: rs121908942
rs121908942 		1.000 0.080 20 32800916 missense variant G/A;T snv
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 7 1999 2016
dbSNP: rs121908940
rs121908940 		0.925 0.120 20 32807793 missense variant G/A;T snv 2.8E-05; 1.2E-05
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.700 0
dbSNP: rs1569686
rs1569686 		0.752 0.400 20 32779273 intron variant G/A;C;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2013 2015
dbSNP: rs1569686
rs1569686 		0.752 0.400 20 32779273 intron variant G/A;C;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2013 2015
dbSNP: rs1569686
rs1569686 		0.752 0.400 20 32779273 intron variant G/A;C;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: rs1569686
rs1569686 		0.752 0.400 20 32779273 intron variant G/A;C;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1569686
rs1569686 		0.752 0.400 20 32779273 intron variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs1569686
rs1569686 		0.752 0.400 20 32779273 intron variant G/A;C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1569686
rs1569686 		0.752 0.400 20 32779273 intron variant G/A;C;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1569686
rs1569686 		0.752 0.400 20 32779273 intron variant G/A;C;T snv
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015