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
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
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
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
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: 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: 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: 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
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
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
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
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
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
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
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
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
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
Oligodontia-Colorectal Cancer Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Stomatognathic Diseases 0.700 0
dbSNP: rs2240308
rs2240308
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.060 1.000 6 2006 2019
dbSNP: rs2240308
rs2240308
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.060 1.000 6 2006 2019
dbSNP: rs2240308
rs2240308
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.060 1.000 6 2006 2019
dbSNP: rs2240308
rs2240308
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.030 1.000 3 2015 2019
dbSNP: rs2240308
rs2240308
0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.030 0.667 3 2011 2019