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: rs121908068
rs121908068 		1.000 0.040 5 177292124 missense variant C/G;T snv 7.6E-05
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 4 2002 2004
dbSNP: rs121908069
rs121908069 		1.000 0.040 5 177293916 missense variant G/C snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 4 2002 2004
dbSNP: rs587784169
rs587784169 		0.925 0.040 5 177282523 missense variant G/A;C snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 4 2002 2004
dbSNP: rs587784174
rs587784174 		0.925 0.040 5 177283791 missense variant G/A snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 4 2002 2004
dbSNP: rs587784176
rs587784176 		0.925 0.040 5 177283826 missense variant C/A;T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 4 2002 2004
dbSNP: rs587784177
rs587784177 		0.790 0.280 5 177283827 missense variant G/A snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.800 1.000 4 2002 2004
dbSNP: rs1554189042
rs1554189042 		1.000 5 177210101 stop gained -/AG ins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2002 2013
dbSNP: rs1554189042
rs1554189042 		1.000 5 177210101 stop gained -/AG ins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2002 2013
dbSNP: rs1554199501
rs1554199501 		1.000 5 177257134 frameshift variant AT/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2002 2013
dbSNP: rs587784141
rs587784141 		0.925 0.040 5 177267719 splice donor variant G/C snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2003 2005
dbSNP: rs587784199
rs587784199 		0.925 0.040 5 177292149 stop gained C/A;T snv 8.0E-06
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2005 2016
dbSNP: rs863224905
rs863224905 		0.925 0.040 5 177269601 splice acceptor variant G/C snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2003 2005
dbSNP: rs886039579
rs886039579 		1.000 0.040 5 177280835 splice donor variant G/A;T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 4 2003 2005
dbSNP: rs1562305920
rs1562305920 		1.000 0.040 5 177292119 missense variant T/G snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2005 2017
dbSNP: rs587784148
rs587784148 		0.925 0.040 5 177269729 stop gained C/T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2003 2012
dbSNP: rs587784173
rs587784173 		0.925 0.040 5 177283790 stop gained C/T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2003 2017
dbSNP: rs587784174
rs587784174 		0.925 0.040 5 177283791 missense variant G/A snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2003 2015
dbSNP: rs1562305497
rs1562305497 		1.000 0.040 5 177292010 frameshift variant A/- delins
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2005 2005
dbSNP: rs587784095
rs587784095 		0.925 0.040 5 177211466 stop gained C/A;T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2005 2012
dbSNP: rs587784117
rs587784117 		0.925 0.040 5 177246716 stop gained C/T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2003 2017
dbSNP: rs587784176
rs587784176 		0.925 0.040 5 177283826 missense variant C/A;T snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2003 2014
dbSNP: rs587784191
rs587784191 		0.925 0.040 5 177292051 missense variant A/G snv
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2005 2012
dbSNP: rs797045057
rs797045057 		1.000 0.040 5 177282522 stop gained C/T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 2 2005 2016
dbSNP: rs10037055
rs10037055 		5 177264278 intron variant T/G snv 0.71
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs10039241
rs10039241 		5 177151071 intron variant G/A snv 0.26
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013