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: rs121908567
rs121908567 		1.000 0.080 17 65536345 stop gained C/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs121908568
rs121908568 		0.807 0.160 17 65536495 stop gained G/A snv
CUI: C1837750
Disease: Oligodontia-Colorectal Cancer Syndrome
Oligodontia-Colorectal Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Stomatognathic Diseases 0.700 1.000 3 2004 2016
dbSNP: rs121908568
rs121908568 		0.807 0.160 17 65536495 stop gained G/A snv
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.020 1.000 2 2004 2016
dbSNP: rs121908568
rs121908568 		0.807 0.160 17 65536495 stop gained G/A snv
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.020 1.000 2 2004 2016
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: rs12452505
rs12452505 		17 65560284 5 prime UTR variant C/G snv 0.10
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1299440644
rs1299440644 		1.000 0.160 17 65534008 frameshift variant A/- delins 4.0E-06
CUI: C1837750
Disease: Oligodontia-Colorectal Cancer Syndrome
Oligodontia-Colorectal Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Stomatognathic Diseases 0.700 0
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: rs1555577613
rs1555577613 		1.000 0.160 17 65537390 frameshift variant T/- del
CUI: C1837750
Disease: Oligodontia-Colorectal Cancer Syndrome
Oligodontia-Colorectal Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Stomatognathic Diseases 0.700 0
dbSNP: rs1555577625
rs1555577625 		1.000 0.160 17 65537399 frameshift variant C/- delins
CUI: C1837750
Disease: Oligodontia-Colorectal Cancer Syndrome
Oligodontia-Colorectal Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Stomatognathic Diseases 0.700 0
dbSNP: rs1555583659
rs1555583659 		1.000 0.160 17 65558426 frameshift variant CG/- del
CUI: C1837750
Disease: Oligodontia-Colorectal Cancer Syndrome
Oligodontia-Colorectal Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Stomatognathic Diseases 0.700 0
dbSNP: rs1567754914
rs1567754914 		1.000 0.160 17 65536954 frameshift variant G/- del
CUI: C1837750
Disease: Oligodontia-Colorectal Cancer Syndrome
Oligodontia-Colorectal Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Stomatognathic Diseases 0.700 0
dbSNP: rs1567755946
rs1567755946 		0.925 0.080 17 65537563 frameshift variant -/CGCGGGAGGCAGC delins
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.700 0