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: rs80338797
rs80338797
0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 5 2007 2010
dbSNP: rs80338796
rs80338796
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 3 2007 2015
dbSNP: rs80338798
rs80338798
0.925 0.160 3 12585761 missense variant C/T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs80338799
rs80338799
0.882 0.160 3 12585745 missense variant G/A;C snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0