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: C0020608
Disease: Hypodontia
Hypodontia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.020 1.000 2 2004 2016
dbSNP: rs730882193
rs730882193
0.807 0.200 17 65536472 stop gained C/G;T snv
CUI: C0020608
Disease: Hypodontia
Hypodontia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.020 1.000 2 2011 2015
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: 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: rs752881223
rs752881223
0.925 0.080 17 65558307 missense variant A/C;G snv
CUI: C0020608
Disease: Hypodontia
Hypodontia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2015 2015