RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
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: rs145037750
rs145037750 		18 70188842 intron variant G/A;T snv 5.5E-03
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs185898
rs185898 		18 70023957 intron variant G/A snv 4.4E-02
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs185898
rs185898 		18 70023957 intron variant G/A snv 4.4E-02
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs318240757
rs318240757 		0.925 18 70135273 missense variant T/A snv
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.700 1.000 1 2012 2012
dbSNP: rs1256028809
rs1256028809 		1.000 18 70030114 splice region variant A/T snv 4.0E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1256028809
rs1256028809 		1.000 18 70030114 splice region variant A/T snv 4.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1256028809
rs1256028809 		1.000 18 70030114 splice region variant A/T snv 4.0E-06
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.700 0
dbSNP: rs1256028809
rs1256028809 		1.000 18 70030114 splice region variant A/T snv 4.0E-06
CUI: C1836806
Disease: Mild microcephaly
Mild microcephaly 		0.700 0
dbSNP: rs1256028809
rs1256028809 		1.000 18 70030114 splice region variant A/T snv 4.0E-06
CUI: C3150077
Disease: Mild short stature
Mild short stature 		0.700 0
dbSNP: rs1555707336
rs1555707336 		1.000 18 70054130 splice donor variant C/T snv
CUI: C4225499
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES 		0.700 0
dbSNP: rs201884120
rs201884120 		1.000 18 70205267 missense variant C/T snv 2.4E-05 9.8E-05
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.700 0
dbSNP: rs318240757
rs318240757 		0.925 18 70135273 missense variant T/A snv
CUI: C4225499
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES 		0.700 0
dbSNP: rs775277800
rs775277800 		0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs775277800
rs775277800 		0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.700 0
dbSNP: rs780270096
rs780270096 		0.925 0.120 18 70028797 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.700 0
dbSNP: rs780270096
rs780270096 		0.925 0.120 18 70028797 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs864321620
rs864321620 		0.925 0.120 18 70135176 splice region variant T/C snv
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.700 0
dbSNP: rs864321620
rs864321620 		0.925 0.120 18 70135176 splice region variant T/C snv
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs864321621
rs864321621 		0.925 0.120 18 70127695 missense variant T/G snv
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs864321621
rs864321621 		0.925 0.120 18 70127695 missense variant T/G snv
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.700 0
dbSNP: rs141156594
rs141156594 		0.925 0.080 18 70196537 missense variant A/C;G snv 1.6E-05; 3.1E-03
CUI: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2015 2015
dbSNP: rs141156594
rs141156594 		0.925 0.080 18 70196537 missense variant A/C;G snv 1.6E-05; 3.1E-03
CUI: C0022548
Disease: Keloid
Keloid 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs775277800
rs775277800 		0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs775277800
rs775277800 		0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017