SKI, SKI proto-oncogene, 6497

N. diseases: 255; N. variants: 22
Disease: Shprintzen-Goldberg syndrome ×
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: rs397514589
rs397514589 		1.000 0.160 1 2228870 missense variant C/A;G snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2012 2015
dbSNP: rs397514590
rs397514590 		1.000 0.160 1 2228869 missense variant C/T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 4 2012 2015
dbSNP: rs869312901
rs869312901 		1.000 0.160 1 2229115 missense variant G/C snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs387907306
rs387907306 		0.925 0.160 1 2228866 missense variant G/A;T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2012 2015
dbSNP: rs1553189986
rs1553189986 		1.000 0.160 1 2229402 inframe deletion TCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGC/- delins
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 2 2002 2003
dbSNP: rs1557806222
rs1557806222 		1.000 0.160 1 2228834 missense variant A/C snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs387907303
rs387907303 		1.000 0.160 1 2229113 missense variant G/A snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs387907304
rs387907304 		1.000 0.160 1 2228860 missense variant C/G;T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs387907305
rs387907305 		1.000 0.160 1 2228867 missense variant G/A;T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs398122889
rs398122889 		1.000 0.160 1 2229046 inframe deletion GACCGCTCC/- delins
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs398122914
rs398122914 		1.000 0.160 1 2229046 inframe deletion TCCGACCGCTCC/- del
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs863223722
rs863223722 		1.000 0.160 1 2229305 missense variant C/A;T snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025525
rs869025525 		1.000 0.160 1 2229118 missense variant G/A snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869312902
rs869312902 		1.000 0.160 1 2228828 missense variant T/G snv
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0