CALM3, calmodulin 3, 808

N. diseases: 215; N. variants: 3
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: rs1060502607
rs1060502607
1.000 0.120 19 46608846 missense variant G/C snv
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 5 2013 2016
dbSNP: rs1060502608
rs1060502608
1.000 0.120 19 46608584 missense variant A/C snv
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1555814427
rs1555814427
1.000 0.120 19 46609125 missense variant A/G snv
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0