Disease: OTOFACIOCERVICAL SYNDROME 1 ×
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: rs1060499603
rs1060499603 		0.882 0.040 8 71211239 stop gained C/A snv
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.700 0
dbSNP: rs397517920
rs397517920 		0.882 0.040 8 71199371 missense variant A/G snv
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.700 0
dbSNP: rs869025180
rs869025180 		1.000 8 71299637 splice donor variant C/T snv
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0.700 0