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: rs121913129
rs121913129
1.000 0.080 4 4862836 missense variant G/C snv
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 2 1996 2002
dbSNP: rs121913130
rs121913130
1.000 0.080 4 4860099 missense variant T/A;C snv
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.800 1.000 2 1996 2002
dbSNP: rs104893850
rs104893850
1.000 0.080 4 4862808 stop gained C/T snv
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs104893852
rs104893852
1.000 0.080 4 4860231 stop gained C/A snv 7.0E-06
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1553877821
rs1553877821
1.000 0.080 4 4859979 frameshift variant -/A delins
CUI: C3489529
Disease: Tooth Agenesis, Familial
Tooth Agenesis, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0