Disease: RAINE 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: rs796051849
rs796051849 		1.000 0.200 7 255939 missense variant T/G snv
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.800 0
dbSNP: rs796051850
rs796051850 		1.000 0.200 7 259870 missense variant C/T snv 1.4E-05 1.4E-05
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.800 0
dbSNP: rs796051852
rs796051852 		1.000 0.200 7 255912 missense variant G/A snv
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.800 0
dbSNP: rs797044462
rs797044462 		1.000 0.200 7 248340 missense variant C/T snv 7.1E-06
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.800 0
dbSNP: rs778899041
rs778899041 		0.925 0.240 7 208916 missense variant C/T snv 2.5E-05 7.0E-06
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 1.000 3 2007 2015
dbSNP: rs267606795
rs267606795 		1.000 0.200 7 255869 missense variant G/C snv
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs779708323
rs779708323 		1.000 0.200 7 208951 missense variant G/A;T snv 4.9E-06; 9.8E-06
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs796051851
rs796051851 		1.000 0.200 7 248312 splice region variant C/G snv
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs796051853
rs796051853 		1.000 0.200 7 257003 splice acceptor variant A/G snv
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs796051854
rs796051854 		1.000 0.200 7 246512 splice region variant G/C snv
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs796051855
rs796051855 		1.000 0.200 7 258645 splice acceptor variant G/A snv
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs796051874
rs796051874 		1.000 0.200 7 195685 missense variant T/A;C snv
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs796051875
rs796051875 		1.000 0.200 7 208909 missense variant G/A;T snv 1.6E-05
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1377083279
rs1377083279 		0.925 0.240 7 255998 missense variant C/T snv 1.4E-05
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs148276213
rs148276213 		1.000 0.200 7 256004 missense variant T/A snv 4.8E-03 5.9E-03
CUI: C1850106
Disease: RAINE SYNDROME
RAINE SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018