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: rs199472910
rs199472910
0.827 0.120 7 150952508 missense variant G/A 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 0.010 1.000 1 2017 2017
dbSNP: rs28928905
rs28928905
0.851 0.120 7 150952514 missense variant C/G;T snv
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2007 2007