NPAS2, neuronal PAS domain protein 2, 4862

N. diseases: 82; N. variants: 19
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: rs11123857
rs11123857 		2 100987350 non coding transcript exon variant A/G snv 0.29
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs36055153
rs36055153 		2 100980158 intron variant G/A snv 0.12
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs60866311
rs60866311 		2 100975599 non coding transcript exon variant T/G snv 4.1E-02 7.2E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs60866311
rs60866311 		2 100975599 non coding transcript exon variant T/G snv 4.1E-02 7.2E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs6542999
rs6542999 		2 100937295 intron variant T/C;G snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6747755
rs6747755 		2 100961996 intron variant G/A snv 0.30
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs879253743
rs879253743 		1.000 0.040 2 100975538 missense variant C/A;G snv
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.700 0
dbSNP: rs2305160
rs2305160 		0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2008 2012
dbSNP: rs2305160
rs2305160 		0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2008 2012
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
Adult Non-Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
Childhood Non-Hodgkin Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10165970
rs10165970 		0.708 0.320 2 100840527 intron variant G/A snv 0.16
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017