Disease: Roifman 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: rs188343279
rs188343279 		0.925 0.360 2 121530930 non coding transcript exon variant G/A snv 4.3E-04 4.5E-04
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs370715569
rs370715569 		1.000 0.240 2 121530887 non coding transcript exon variant C/G;T snv 1.5E-05; 3.9E-04
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs559979281
rs559979281 		0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs750325275
rs750325275 		1.000 0.240 2 121530895 non coding transcript exon variant G/A;T snv 1.5E-04; 7.7E-06
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs756026847
rs756026847 		1.000 0.240 2 121530916 non coding transcript exon variant G/A;C snv 6.1E-05; 7.7E-06; 7.7E-06
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs863225422
rs863225422 		0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs863225423
rs863225423 		1.000 0.240 2 121530997 non coding transcript exon variant T/C snv 2.3E-05 2.1E-05
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0