rs1567690011, PRMT7

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
Infantile axial hypotonia
CUI: C3806604
Disease: Infantile axial hypotonia
8 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
Infantile sensorineural hearing impairment
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
4 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
Preauricular skin tag
CUI: C1860816
Disease: Preauricular skin tag
4 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
CUI: C4310689
Disease: SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
8 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0