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: rs587784095
rs587784095 		0.925 0.040 5 177211466 stop gained C/A;T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784096
rs587784096 		1.000 0.040 5 177211490 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: rs587784097
rs587784097 		1.000 0.040 5 177211581 frameshift variant TG/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784098
rs587784098 		1.000 0.040 5 177211613 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: rs587784099
rs587784099 		1.000 0.040 5 177211692 frameshift variant C/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784100
rs587784100 		1.000 0.040 5 177211693 frameshift variant A/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784101
rs587784101 		1.000 0.040 5 177211778 frameshift variant CT/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784103
rs587784103 		1.000 0.040 5 177211977 frameshift variant GTGAC/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784104
rs587784104 		0.925 0.040 5 177212056 frameshift variant AG/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784105
rs587784105 		0.732 0.440 5 177235863 stop gained G/A snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784107
rs587784107 		1.000 0.040 5 177238279 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: rs587784109
rs587784109 		1.000 0.040 5 177238372 stop gained G/T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784110
rs587784110 		1.000 0.040 5 177238391 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: rs587784111
rs587784111 		1.000 0.040 5 177238509 splice donor variant T/G snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784112
rs587784112 		1.000 0.040 5 177239860 frameshift variant A/-;AA delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784114
rs587784114 		1.000 0.040 5 177244267 frameshift variant G/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784115
rs587784115 		0.925 0.080 5 177244271 splice donor variant G/A snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784117
rs587784117 		0.925 0.040 5 177246716 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: rs587784118
rs587784118 		1.000 0.040 5 177246743 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: rs587784119
rs587784119 		1.000 0.040 5 177246792 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: rs587784120
rs587784120 		1.000 0.040 5 177248178 splice region variant A/G snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784121
rs587784121 		1.000 0.040 5 177248212 frameshift variant G/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784122
rs587784122 		1.000 0.040 5 177251769 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: rs587784123
rs587784123 		1.000 0.040 5 177251792 frameshift variant G/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs587784124
rs587784124 		1.000 0.040 5 177251819 frameshift variant AA/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0