SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
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: rs104894537
rs104894537
0.925 0.200 16 51141396 stop gained G/A;T snv 1.2E-05
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 0.710 1.000 2 1999 2002
dbSNP: rs1555475319
rs1555475319
1.000 0.200 16 51141264 stop gained G/A snv
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 0.700 1.000 2 1999 2005
dbSNP: rs104894538
rs104894538
0.882 0.200 16 51141255 stop gained G/A snv
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 0.700 0
dbSNP: rs1064793257
rs1064793257
1.000 0.200 16 51138807 frameshift variant AT/- del 1.4E-05
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 0.700 0
dbSNP: rs1555475106
rs1555475106
1.000 0.200 16 51139866 frameshift variant G/- delins
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 0.700 0
dbSNP: rs1555475120
rs1555475120
1.000 0.200 16 51139966 frameshift variant G/- del
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 0.700 0
dbSNP: rs1555475275
rs1555475275
1.000 0.200 16 51141007 frameshift variant -/G delins
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 0.700 0
dbSNP: rs1555475334
rs1555475334
1.000 0.200 16 51141356 stop gained A/T snv
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 0.700 0