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: rs387906661
rs387906661
0.807 0.280 7 140801551 missense variant T/G snv
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.800 1.000 1 2009 2009
dbSNP: rs180177042
rs180177042
0.807 0.280 7 140749365 missense variant A/C;T snv
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 0
dbSNP: rs387906660
rs387906660
0.790 0.280 7 140801550 missense variant G/A;C;T snv
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 0
dbSNP: rs397507466
rs397507466
0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 0
dbSNP: rs397516895
rs397516895
0.827 0.280 7 140753392 missense variant A/T snv
CUI: C3150971
Disease: LEOPARD SYNDROME 3
LEOPARD SYNDROME 3
0.700 0