Disease: Romano-Ward 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: rs17215500
rs17215500 		0.807 0.240 11 2768881 stop gained C/G;T snv 1.0E-04
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 9 1999 2015
dbSNP: rs199472696
rs199472696 		0.851 0.120 11 2570670 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 1997 2013
dbSNP: rs397508111
rs397508111 		0.882 0.120 11 2528023 splice region variant G/A;C snv 1.2E-05
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1999 2012
dbSNP: rs397508112
rs397508112 		0.882 0.120 11 2570638 frameshift variant T/- del
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2004 2009
dbSNP: rs794728565
rs794728565 		0.882 0.120 11 2527943 frameshift variant G/- delins
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs786204778
rs786204778 		0.925 0.120 11 2572891 frameshift variant T/- del 4.0E-06
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0