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: 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
dbSNP: rs1554199368
rs1554199368 		0.827 0.160 5 177256956 missense variant C/T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554200207
rs1554200207 		1.000 0.040 5 177260091 missense variant C/G snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554204122
rs1554204122 		1.000 0.040 5 177280700 missense variant T/A snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554204921
rs1554204921 		1.000 0.040 5 177283797 missense variant T/C snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554206783
rs1554206783 		1.000 0.040 5 177292023 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: rs1554206836
rs1554206836 		1.000 0.040 5 177292131 frameshift variant -/G delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554207316
rs1554207316 		1.000 0.040 5 177293981 missense variant C/T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1562099585
rs1562099585 		1.000 0.040 5 177135999 frameshift variant C/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1562206791
rs1562206791 		0.925 0.080 5 177210250 frameshift variant A/- delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1562213381
rs1562213381 		1.000 0.040 5 177211935 frameshift variant A/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1562246533
rs1562246533 		1.000 0.040 5 177239866 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: rs1562269320
rs1562269320 		1.000 0.040 5 177259998 frameshift variant -/G delins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1562292879
rs1562292879 		1.000 0.040 5 177280666 frameshift variant C/- del
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1562295135
rs1562295135 		1.000 0.040 5 177282569 frameshift variant -/T ins
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1562296511
rs1562296511 		1.000 0.040 5 177283929 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