Disease: Abnormality of the face ×
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: rs1287121256
rs1287121256 		0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017
dbSNP: rs1554122526
rs1554122526 		0.882 0.040 5 150256811 missense variant A/G snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982 		0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867 		0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 1.000 1 2017 2017