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: rs1064797092
rs1064797092
1.000 0.200 14 58645879 stop gained G/A snv 4.0E-06
CUI: C0265246
Disease: Townes syndrome
Townes syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs562920966
rs562920966
14 58645694 missense variant A/T snv 8.0E-06
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1198900887
rs1198900887
1.000 0.080 14 58646668 missense variant C/T snv 4.1E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs778976254
rs778976254
1.000 14 58638335 missense variant C/T snv 6.0E-04 2.1E-05
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs778976254
rs778976254
1.000 14 58638335 missense variant C/T snv 6.0E-04 2.1E-05
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
0.700 1.000 1 2012 2012