ENOSF1, enolase superfamily member 1, 55556

N. diseases: 59; N. variants: 16
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: rs1448674651
rs1448674651 		0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3819102
rs3819102 		0.827 0.120 18 675307 intron variant A/G snv 4.5E-02 3.6E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3819102
rs3819102 		0.827 0.120 18 675307 intron variant A/G snv 4.5E-02 3.6E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3819102
rs3819102 		0.827 0.120 18 675307 intron variant A/G snv 4.5E-02 3.6E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3819102
rs3819102 		0.827 0.120 18 675307 intron variant A/G snv 4.5E-02 3.6E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3819102
rs3819102 		0.827 0.120 18 675307 intron variant A/G snv 4.5E-02 3.6E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3819102
rs3819102 		0.827 0.120 18 675307 intron variant A/G snv 4.5E-02 3.6E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs3819102
rs3819102 		0.827 0.120 18 675307 intron variant A/G snv 4.5E-02 3.6E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3819102
rs3819102 		0.827 0.120 18 675307 intron variant A/G snv 4.5E-02 3.6E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs495139
rs495139 		0.882 0.120 18 676008 intron variant G/C snv 0.63
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2010 2018
dbSNP: rs495139
rs495139 		0.882 0.120 18 676008 intron variant G/C snv 0.63
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2010 2018
dbSNP: rs495139
rs495139 		0.882 0.120 18 676008 intron variant G/C snv 0.63
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2010 2018
dbSNP: rs2612091
rs2612091 		0.882 0.160 18 683607 intron variant C/T snv 0.63
CUI: C2745948
Disease: Hyalinosis, Systemic
Hyalinosis, Systemic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2612091
rs2612091 		0.882 0.160 18 683607 intron variant C/T snv 0.63
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2612091
rs2612091 		0.882 0.160 18 683607 intron variant C/T snv 0.63
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs495139
rs495139 		0.882 0.120 18 676008 intron variant G/C snv 0.63
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1059394
rs1059394 		0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.020 1.000 2 2019 2019
dbSNP: rs10502289
rs10502289 		0.925 0.080 18 676789 intron variant A/T snv 0.15
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs10502289
rs10502289 		0.925 0.080 18 676789 intron variant A/T snv 0.15
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs1059394
rs1059394 		0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs151264360
rs151264360 		0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis 		Stomatognathic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs151264360
rs151264360 		0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C0020625
Disease: Hyponatremia
Hyponatremia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs151264360
rs151264360 		0.925 0.040 18 673444 3 prime UTR variant AAGTTA/-;AAGTTAAAGTTA delins
CUI: C0038362
Disease: Stomatitis
Stomatitis 		Stomatognathic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs2298581
rs2298581 		0.925 0.080 18 677931 intron variant C/G snv 0.22
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs2298581
rs2298581 		0.925 0.080 18 677931 intron variant C/G snv 0.22
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009