Disease: SOTOS SYNDROME 1 ×
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: 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: rs1057516048
rs1057516048 		0.925 0.200 5 177283796 missense variant A/T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2016 2016
dbSNP: rs1562305653
rs1562305653 		1.000 0.040 5 177292061 missense variant T/G snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2016 2016
dbSNP: rs587784077
rs587784077 		1.000 0.040 5 177210230 stop gained C/G;T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2005 2005
dbSNP: rs587784137
rs587784137 		1.000 0.040 5 177260120 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 1 2007 2007
dbSNP: rs587784148
rs587784148 		0.925 0.040 5 177269729 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 1 2003 2003
dbSNP: rs794729232
rs794729232 		1.000 0.040 5 177210141 frameshift variant A/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2003 2003
dbSNP: rs797045058
rs797045058 		1.000 0.040 5 177295334 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 1 2016 2016
dbSNP: rs879253860
rs879253860 		1.000 0.040 5 177293901 frameshift variant -/C delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
dbSNP: rs1006906224
rs1006906224 		1.000 0.040 5 177211437 stop gained C/G;T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1131692328
rs1131692328 		1.000 0.040 5 177209948 stop gained C/A;G;T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs121908067
rs121908067 		1.000 0.040 5 177209709 stop gained C/G snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs121908070
rs121908070 		1.000 0.040 5 177238273 stop gained C/T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs121908071
rs121908071 		1.000 0.040 5 177293973 missense variant G/A snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1286331975
rs1286331975 		1.000 0.040 5 177210272 stop gained G/A;T snv 4.0E-06
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554189482
rs1554189482 		1.000 0.040 5 177210710 frameshift variant G/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554189941
rs1554189941 		1.000 0.040 5 177211403 frameshift variant AA/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554189972
rs1554189972 		1.000 0.040 5 177211433 stop gained -/TTCAGACTGTGTTACTAGG delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554195815
rs1554195815 		1.000 0.040 5 177238235 splice acceptor variant AGGTAA/G delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0