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: 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: rs730882193
rs730882193 		0.807 0.200 17 65536472 stop gained C/G;T snv
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.020 1.000 2 2011 2015
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: 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: 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: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2019 2019
dbSNP: rs3923087
rs3923087 		0.827 0.160 17 65553143 intron variant T/C snv 0.58
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs4790930
rs4790930 		17 65555266 intron variant C/A snv 0.66
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4791171
rs4791171 		0.763 0.080 17 65545379 intron variant T/C snv 0.55
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs4791171
rs4791171 		0.763 0.080 17 65545379 intron variant T/C snv 0.55
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs4791171
rs4791171 		0.763 0.080 17 65545379 intron variant T/C snv 0.55
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs4791171
rs4791171 		0.763 0.080 17 65545379 intron variant T/C snv 0.55
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs4791171
rs4791171 		0.763 0.080 17 65545379 intron variant T/C snv 0.55
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs4791171
rs4791171 		0.763 0.080 17 65545379 intron variant T/C snv 0.55
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs752881223
rs752881223 		0.925 0.080 17 65558307 missense variant A/C;G snv
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.010 1.000 1 2015 2015
dbSNP: rs1567755946
rs1567755946 		0.925 0.080 17 65537563 frameshift variant -/CGCGGGAGGCAGC delins
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.700 0
dbSNP: rs7224837
rs7224837 		0.925 0.200 17 65532005 intron variant G/A snv 0.89
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
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: 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
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