MSX1, msh homeobox 1, 4487

N. diseases: 180; N. variants: 21
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: rs515726227
rs515726227
0.925 0.080 4 4863139 frameshift variant -/TA delins
CUI: C0020608
Disease: Hypodontia
Hypodontia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.710 1.000 2 1996 2014
dbSNP: rs1095
rs1095
0.925 0.080 4 4863211 3 prime UTR variant C/T snv 1.5E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs34165410
rs34165410
0.925 0.080 4 4860247 synonymous variant C/G;T snv 4.8E-06; 6.8E-02
CUI: C0020608
Disease: Hypodontia
Hypodontia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs8670
rs8670
0.925 0.080 4 4863149 3 prime UTR variant C/T snv 0.22 0.23
CUI: C0020608
Disease: Hypodontia
Hypodontia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2019 2019