ACTL6B, actin like 6B, 51412

N. diseases: 100; 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: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0476287
Disease: Breath-holding spell
Breath-holding spell 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C1859339
Disease: Midfrontal capillary hemangioma
Midfrontal capillary hemangioma 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C4072950
Disease: Abnormal timing of pattern reversal visual evoked potentials
Abnormal timing of pattern reversal visual evoked potentials 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694 		0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.700 1.000 1 2019 2019
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2017 2017
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2017 2017
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs7383856
rs7383856 		7 100644788 intron variant G/A snv 4.9E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs1060499738
rs1060499738 		1.000 7 100647014 missense variant C/T snv 7.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1060499738
rs1060499738 		1.000 7 100647014 missense variant C/T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1131692228
rs1131692228 		0.925 0.160 7 100646637 missense variant C/T snv
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1131692228
rs1131692228 		0.925 0.160 7 100646637 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131692228
rs1131692228 		0.925 0.160 7 100646637 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1131692228
rs1131692228 		0.925 0.160 7 100646637 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131692228
rs1131692228 		0.925 0.160 7 100646637 missense variant C/T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0