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: rs1015438
rs1015438
16 51143606 intron variant G/A snv 0.19
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs104894537
rs104894537
0.925 0.200 16 51141396 stop gained G/A;T snv 1.2E-05
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs116971887
rs116971887
16 51136115 3 prime UTR variant G/T snv 3.1E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1.000 1 2018 2018
dbSNP: rs116971887
rs116971887
16 51136115 3 prime UTR variant G/T snv 3.1E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs12924434
rs12924434
16 51151047 non coding transcript exon variant T/C snv 0.27
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs1965024
rs1965024
16 51139648 synonymous variant G/A;T snv 0.63; 6.4E-05
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1.000 1 2018 2018
dbSNP: rs864621971
rs864621971
1.000 0.200 16 51141273 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs104894535
rs104894535
1.000 0.200 16 51141107 stop gained G/C;T snv
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs104894538
rs104894538
0.882 0.200 16 51141255 stop gained G/A snv
Townes-Brocks-Branchiootorenal-Like 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: 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: rs104894538
rs104894538
0.882 0.200 16 51141255 stop gained G/A snv
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1
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: rs1085307143
rs1085307143
1.000 0.200 16 51141113 frameshift variant AC/- del
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs137853084
rs137853084
1.000 0.200 16 51140966 stop gained A/T snv 8.0E-06
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1
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