rs1562203136, PHIP

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.
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
17 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0