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: 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: 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: 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
dbSNP: rs1567755946
rs1567755946 		0.925 0.080 17 65537563 frameshift variant -/CGCGGGAGGCAGC delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1567769335
rs1567769335 		1.000 0.160 17 65558387 stop gained C/T 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 0
dbSNP: rs267606674
rs267606674 		0.925 0.160 17 65536467 frameshift variant C/-;CC delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs267606674
rs267606674 		0.925 0.160 17 65536467 frameshift variant C/-;CC 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: rs367624903
rs367624903 		1.000 0.160 17 65537394 stop gained C/A;T snv 4.0E-06 7.0E-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: rs730882193
rs730882193 		0.807 0.200 17 65536472 stop gained C/G;T 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 0
dbSNP: rs771001164
rs771001164 		1.000 0.160 17 65537821 frameshift variant CTCT/-;CT delins 5.4E-06 7.0E-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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2004 2004
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: 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: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2006 2006
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: rs749846538
rs749846538 		1.000 0.040 17 65537814 missense variant C/T snv 6.7E-05 4.2E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.010 1.000 1 2007 2007
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: rs773157765
rs773157765 		1.000 0.160 17 65536554 splice acceptor variant C/T snv 8.2E-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 1.000 2 2004 2011
dbSNP: rs775783026
rs775783026 		1.000 0.160 17 65537837 splice acceptor variant T/C snv 1.4E-05
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 2 2004 2011
dbSNP: rs978837790
rs978837790 		1.000 0.160 17 65536555 splice acceptor variant T/C snv 1.2E-05 1.4E-05
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 2 2004 2011