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: rs910083
rs910083 		1.000 0.080 20 32790884 intron variant A/C;G;T snv
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
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: 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: 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: rs371864380
rs371864380 		1.000 0.080 20 32800255 missense variant A/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs753800000
rs753800000 		1.000 0.080 20 32797284 missense variant A/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs779489353
rs779489353 		1.000 0.160 20 32788957 missense variant A/G snv 2.8E-05
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs998382
rs998382 		1.000 0.040 20 32796330 intron variant A/G snv 0.49
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2424932
rs2424932 		0.827 0.200 20 32808730 3 prime UTR variant A/G;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2424932
rs2424932 		0.827 0.200 20 32808730 3 prime UTR variant A/G;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2424932
rs2424932 		0.827 0.200 20 32808730 3 prime UTR variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs2424932
rs2424932 		0.827 0.200 20 32808730 3 prime UTR variant A/G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2424932
rs2424932 		0.827 0.200 20 32808730 3 prime UTR variant A/G;T snv
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
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: rs121908945
rs121908945 		1.000 0.080 20 32780411 stop gained C/A;T 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: rs2424913
rs2424913 		0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2011 2015
dbSNP: rs2424913
rs2424913 		0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2011 2015
dbSNP: rs2424913
rs2424913 		0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53
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 0.020 1.000 2 2015 2018
dbSNP: rs2424913
rs2424913 		0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2015 2018
dbSNP: rs2424913
rs2424913 		0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2017 2017
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: rs2424908
rs2424908 		0.925 0.080 20 32772577 intron variant C/T snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2424908
rs2424908 		0.925 0.080 20 32772577 intron variant C/T snv 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2424908
rs2424908 		0.925 0.080 20 32772577 intron variant C/T snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012