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: rs76246107
rs76246107 		0.851 0.160 19 49618017 intron variant G/A snv 7.7E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs76246107
rs76246107 		0.851 0.160 19 49618017 intron variant G/A snv 7.7E-02
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs76246107
rs76246107 		0.851 0.160 19 49618017 intron variant G/A snv 7.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs76246107
rs76246107 		0.851 0.160 19 49618017 intron variant G/A snv 7.7E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1555740394
rs1555740394 		0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins
CUI: C1854301
Disease: Motor delay
Motor delay 		Mental Disorders 0.700 0
dbSNP: rs1555740394
rs1555740394 		0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1555740394
rs1555740394 		0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1555740394
rs1555740394 		0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1555740394
rs1555740394 		0.882 0.120 19 49595234 frameshift variant -/ACCACCC 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
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		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: 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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
CUI: C0015310
Disease: Exotropia
Exotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555740650
rs1555740650 		0.807 0.240 19 49596253 stop gained G/T snv
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: C0349588
Disease: Short stature
Short stature 		0.700 0