MNX1, motor neuron and pancreas homeobox 1, 3110

N. diseases: 113; N. variants: 9
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: rs121912548
rs121912548
1.000 0.120 7 157006595 missense variant T/A snv
CUI: C1531773
Disease: Currarino triad
Currarino triad
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.800 1.000 4 2000 2012
dbSNP: rs13221118
rs13221118
0.925 0.040 7 157007928 non coding transcript exon variant A/G snv 0.16
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs13221118
rs13221118
0.925 0.040 7 157007928 non coding transcript exon variant A/G snv 0.16
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs140751051
rs140751051
1.000 0.080 7 157000756 intron variant -/A delins
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs121912546
rs121912546
1.000 0.120 7 157006556 stop gained G/A snv
CUI: C1531773
Disease: Currarino triad
Currarino triad
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121912547
rs121912547
1.000 0.120 7 157009859 stop gained G/A;T snv
CUI: C1531773
Disease: Currarino triad
Currarino triad
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121912549
rs121912549
1.000 0.120 7 157006487 stop gained C/A snv
CUI: C1531773
Disease: Currarino triad
Currarino triad
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554594329
rs1554594329
1.000 0.120 7 157010297 frameshift variant -/G delins
CUI: C1531773
Disease: Currarino triad
Currarino triad
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563700090
rs1563700090
1.000 0.120 7 157005875 splice acceptor variant T/C snv
CUI: C1531773
Disease: Currarino triad
Currarino triad
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563700419
rs1563700419
1.000 0.120 7 157006478 splice donor variant C/T snv
CUI: C1531773
Disease: Currarino triad
Currarino triad
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 0