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: rs121918453
rs121918453
0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0
dbSNP: rs121918454
rs121918454
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0
dbSNP: rs121918457
rs121918457
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0
dbSNP: rs121918458
rs121918458
0.807 0.320 12 112489080 missense variant T/A;G snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0
dbSNP: rs121918459
rs121918459
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0
dbSNP: rs121918460
rs121918460
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0
dbSNP: rs121918463
rs121918463
0.851 0.240 12 112477651 missense variant T/A;C;G snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0
dbSNP: rs397507501
rs397507501
0.882 0.160 12 112446385 missense variant A/G snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0
dbSNP: rs397507545
rs397507545
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
0.700 0