Disease: Leopard Syndrome 1 ×
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: rs121918468
rs121918468 		0.882 0.160 12 112488444 missense variant G/A;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 11 2002 2016
dbSNP: rs121918469
rs121918469 		0.882 0.160 12 112488454 missense variant G/C snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 11 2002 2016
dbSNP: rs121918470
rs121918470 		0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 11 2002 2016
dbSNP: rs121918456
rs121918456 		0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 10 2002 2016
dbSNP: rs121918457
rs121918457 		0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 10 2002 2016
dbSNP: rs28933386
rs28933386 		0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 19 2001 2018
dbSNP: rs397507541
rs397507541 		0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 11 2002 2016
dbSNP: rs397507542
rs397507542 		0.790 0.320 12 112489069 missense variant G/T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 11 2002 2016
dbSNP: rs397507549
rs397507549 		0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 11 2002 2016
dbSNP: rs397509345
rs397509345 		0.851 0.160 12 112489093 missense variant AG/CC mnv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 10 2002 2016
dbSNP: rs121918453
rs121918453 		0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121918454
rs121918454 		0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121918455
rs121918455 		0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121918459
rs121918459 		0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121918460
rs121918460 		0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121918462
rs121918462 		0.742 0.320 12 112450398 missense variant C/T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121918466
rs121918466 		0.752 0.280 12 112450416 missense variant A/G snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397507505
rs397507505 		0.827 0.240 12 112450352 missense variant A/C;G;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397507506
rs397507506 		0.807 0.240 12 112450354 missense variant C/A;G snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397507510
rs397507510 		0.776 0.280 12 112450361 missense variant G/A;C;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397507514
rs397507514 		0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397507520
rs397507520 		0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397507531
rs397507531 		0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397507545
rs397507545 		0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397507546
rs397507546 		0.790 0.360 12 112489084 missense variant G/A;C;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 0