AXIN2, axin 2, 8313

N. diseases: 169; N. variants: 34
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: rs1133683
rs1133683 		1.000 0.080 17 65537650 synonymous variant G/A snv 0.60; 5.4E-06 0.53
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1133683
rs1133683 		1.000 0.080 17 65537650 synonymous variant G/A snv 0.60; 5.4E-06 0.53
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1133683
rs1133683 		1.000 0.080 17 65537650 synonymous variant G/A snv 0.60; 5.4E-06 0.53
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121908568
rs121908568 		0.807 0.160 17 65536495 stop gained G/A snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs121908568
rs121908568 		0.807 0.160 17 65536495 stop gained G/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121908568
rs121908568 		0.807 0.160 17 65536495 stop gained G/A snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016
dbSNP: rs121908568
rs121908568 		0.807 0.160 17 65536495 stop gained G/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs121908568
rs121908568 		0.807 0.160 17 65536495 stop gained G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121908568
rs121908568 		0.807 0.160 17 65536495 stop gained G/A snv
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2016 2016
dbSNP: rs139209450
rs139209450 		1.000 0.040 17 65535650 missense variant G/A snv 1.0E-03 3.0E-04
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs139871607
rs139871607 		1.000 0.080 17 65538235 missense variant T/C snv 7.3E-04 7.3E-04
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1418913084
rs1418913084 		1.000 0.080 17 65541504 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs151279728
rs151279728 		0.925 0.080 17 65536437 inframe deletion GTGGTGCGGGGG/- delins 5.5E-03 2.2E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs151279728
rs151279728 		0.925 0.080 17 65536437 inframe deletion GTGGTGCGGGGG/- delins 5.5E-03 2.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2240307
rs2240307 		0.882 0.200 17 65558189 synonymous variant A/G snv 4.4E-02 4.2E-02
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2240307
rs2240307 		0.882 0.200 17 65558189 synonymous variant A/G snv 4.4E-02 4.2E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2240307
rs2240307 		0.882 0.200 17 65558189 synonymous variant A/G snv 4.4E-02 4.2E-02
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2240308
rs2240308 		0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2240308
rs2240308 		0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2240308
rs2240308 		0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs2240308
rs2240308 		0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2240308
rs2240308 		0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2240308
rs2240308 		0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2006 2006
dbSNP: rs2240308
rs2240308 		0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
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 2014 2014
dbSNP: rs2240308
rs2240308 		0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014