Disease: FRONTOMETAPHYSEAL DYSPLASIA 2 ×
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: rs886039230
rs886039230 		1.000 6 90518552 missense variant G/A;C;T snv 4.1E-06; 4.1E-06
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.810 1.000 2 2016 2018
dbSNP: rs886039231
rs886039231 		1.000 6 90571720 missense variant C/G snv
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.700 1.000 1 2016 2016
dbSNP: rs886039232
rs886039232 		1.000 6 90561666 missense variant A/T snv
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.700 1.000 1 2016 2016
dbSNP: rs886039233
rs886039233 		1.000 6 90556605 missense variant C/G snv
CUI: C4310697
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2
FRONTOMETAPHYSEAL DYSPLASIA 2 		0.700 1.000 1 2016 2016