SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
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: rs74315429
rs74315429
1.000 0.120 20 51788940 missense variant T/C snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 3 2002 2006
dbSNP: rs879255537
rs879255537
1.000 0.120 20 51792072 frameshift variant -/C delins
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1555850961
rs1555850961
1.000 0.120 20 51791920 frameshift variant C/- delins
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568864697
rs1568864697
1.000 0.120 20 51791251 frameshift variant A/- del
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568865283
rs1568865283
1.000 0.120 20 51791655 frameshift variant -/C delins
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315424
rs74315424
1.000 0.120 20 51790529 stop gained G/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315425
rs74315425
1.000 0.120 20 51789010 stop gained G/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315426
rs74315426
1.000 0.120 20 51791960 stop gained T/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315427
rs74315427
1.000 0.120 20 51790634 stop gained G/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs74315428
rs74315428
1.000 0.120 20 51788890 stop gained G/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797044509
rs797044509
1.000 0.120 20 51791986 frameshift variant -/G delins
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0