EXO1, exonuclease 1, 9156

N. diseases: 87; N. variants: 22
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: rs1635501
rs1635501 		1 241877473 intron variant C/T snv 0.54
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.800 1.000 1 2012 2012
dbSNP: rs72755295
rs72755295 		1.000 0.080 1 241870961 intron variant A/G snv 2.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2017
dbSNP: rs1635506
rs1635506 		1 241865502 intron variant T/C snv 0.49
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2019 2019
dbSNP: rs2236918
rs2236918 		1 241854524 intron variant C/G snv 0.62
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2015 2015
dbSNP: rs4149909
rs4149909 		0.882 0.040 1 241860596 missense variant A/G;T snv 2.4E-02; 4.0E-06
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4149909
rs4149909 		0.882 0.040 1 241860596 missense variant A/G;T snv 2.4E-02; 4.0E-06
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4149909
rs4149909 		0.882 0.040 1 241860596 missense variant A/G;T snv 2.4E-02; 4.0E-06
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs72755295
rs72755295 		1.000 0.080 1 241870961 intron variant A/G snv 2.1E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs72755295
rs72755295 		1.000 0.080 1 241870961 intron variant A/G snv 2.1E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 0.750 4 2012 2016
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 0.750 4 2012 2016
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 0.667 3 2008 2014
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 0.667 3 2008 2014
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 0.667 3 2008 2014
dbSNP: rs851797
rs851797 		0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2008 2009
dbSNP: rs851797
rs851797 		0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2008 2009
dbSNP: rs851797
rs851797 		0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2008 2009
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1047840
rs1047840 		0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012