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: 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: rs121908939
rs121908939 		1.000 0.080 20 32807791 missense variant A/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 0.800 1.000 7 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: rs121908943
rs121908943 		1.000 0.080 20 32800200 missense variant G/A snv 8.0E-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 0.800 1.000 7 1999 2016
dbSNP: rs121908946
rs121908946 		1.000 0.080 20 32807860 missense variant G/A snv 8.0E-06 7.0E-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 0.800 1.000 7 1999 2016
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: 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: 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: rs1219696128
rs1219696128 		1.000 0.080 20 32807782 missense variant A/G snv 7.0E-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 1.000 7 1999 2016
dbSNP: rs866792483
rs866792483 		1.000 0.080 20 32807847 missense variant G/A snv 7.0E-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 1.000 7 1999 2016
dbSNP: rs146680938
rs146680938 		20 32809593 downstream gene variant C/T snv 9.4E-03
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		0.700 1.000 1 2017 2017
dbSNP: rs4911253
rs4911253 		20 32764779 intron variant A/G;T snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs55768819
rs55768819 		20 32775561 intron variant C/A;G;T snv
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
dbSNP: rs6058869
rs6058869 		0.827 0.120 20 32760944 upstream gene variant C/T snv 0.55
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6058869
rs6058869 		0.827 0.120 20 32760944 upstream gene variant C/T snv 0.55
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6058869
rs6058869 		0.827 0.120 20 32760944 upstream gene variant C/T snv 0.55
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs6058869
rs6058869 		0.827 0.120 20 32760944 upstream gene variant C/T snv 0.55
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6058869
rs6058869 		0.827 0.120 20 32760944 upstream gene variant C/T snv 0.55
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6058869
rs6058869 		0.827 0.120 20 32760944 upstream gene variant C/T snv 0.55
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6058893
rs6058893 		20 32804971 intron variant C/T snv 0.52
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs889145646
rs889145646 		1.000 0.120 20 32801353 missense variant C/T snv 1.4E-05
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs910083
rs910083 		1.000 0.080 20 32790884 intron variant A/C;G;T snv
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
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: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.700 0