PRR12, proline rich 12, 57479

N. diseases: 35; N. variants: 7
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: rs2116922
rs2116922 		19 49599995 intron variant G/A snv 0.36
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs73058052
rs73058052 		19 49596165 synonymous variant C/T snv 0.16 0.16
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2016 2016
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0423848
Disease: Distichiasis
Distichiasis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0240953
Disease: Winged scapula
Winged scapula 		0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C4022727
Disease: Stellate iris
Stellate iris 		0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1555741826
rs1555741826 		0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C1866933
Disease: Structural brain abnormalities
Structural brain abnormalities 		0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0