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: rs17201143
rs17201143 		20 51785540 intron variant C/T snv 0.24
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs6126344
rs6126344 		0.925 0.120 20 51790963 missense variant A/C;T snv 0.35; 8.0E-06
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6126344
rs6126344 		0.925 0.120 20 51790963 missense variant A/C;T snv 0.35; 8.0E-06
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
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
dbSNP: rs1357911800
rs1357911800 		20 51790094 missense variant T/A snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs139382539
rs139382539 		1.000 0.040 20 51791942 missense variant C/T snv 4.5E-04 5.2E-04
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs151297824
rs151297824 		20 51791897 missense variant G/A snv 2.8E-05 2.1E-05
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs755503899
rs755503899 		1.000 0.040 20 51790204 missense variant G/A snv 4.0E-06
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019