Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.800 1.000 15 2002 2019
dbSNP: rs121918457
rs121918457
PTPN11
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.780 1.000 21 2002 2018
dbSNP: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.740 1.000 10 2005 2017
dbSNP: rs121918470
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.730 1.000 5 2004 2019
dbSNP: rs397507548
rs397507548
PTPN11
0.851 0.160 12 112489093 missense variant A/C snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.720 1.000 9 2003 2019
dbSNP: rs397507529
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.710 1.000 9 2001 2011
dbSNP: rs121918468
rs121918468
PTPN11
0.882 0.160 12 112488444 missense variant G/A;T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 8 2004 2014
dbSNP: rs397507523
rs397507523
PTPN11
0.882 0.160 12 112472954 missense variant A/G snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 6 2003 2014
dbSNP: rs121918469
rs121918469
PTPN11
0.882 0.160 12 112488454 missense variant G/C snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 5 2006 2009
dbSNP: rs80338797
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 5 2007 2010
dbSNP: rs397507542
rs397507542
PTPN11
0.790 0.320 12 112489069 missense variant G/T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 4 2004 2008
dbSNP: rs397507541
rs397507541
PTPN11
0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 3 2004 2006
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 3 2007 2015
dbSNP: rs387906661
rs387906661
BRAF
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 0
dbSNP: rs397507466
rs397507466
BRAF
0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 0
dbSNP: rs80338798
rs80338798
RAF1
0.925 0.160 3 12585761 missense variant C/T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 0
dbSNP: rs80338799
rs80338799
RAF1
0.882 0.160 3 12585745 missense variant G/A;C snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 0