ZSWIM6, zinc finger SWIM-type containing 6, 57688

N. diseases: 95; N. variants: 15
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: rs587777695
rs587777695 		0.925 0.120 5 61544156 missense variant C/T snv
CUI: C1863616
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS
ACROMELIC FRONTONASAL DYSOSTOSIS 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.800 1.000 2 2014 2016
dbSNP: rs7709645
rs7709645 		1.000 0.040 5 61435631 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.800 1.000 1 2012 2012
dbSNP: rs587777695
rs587777695 		0.925 0.120 5 61544156 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2014 2017
dbSNP: rs587777695
rs587777695 		0.925 0.120 5 61544156 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2014 2017
dbSNP: rs587777695
rs587777695 		0.925 0.120 5 61544156 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2014 2017
dbSNP: rs10223052
rs10223052 		5 61504509 intron variant A/G snv 0.73
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs13179617
rs13179617 		5 61527343 intron variant G/T snv 0.38
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs142089946
rs142089946 		1.000 0.040 5 61495766 intron variant C/G snv 3.3E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs1554041295
rs1554041295 		0.925 0.160 5 61541917 stop gained C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs4490539
rs4490539 		5 61389930 intron variant A/G snv 0.31
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs6449533
rs6449533 		5 61426817 intron variant T/C snv 0.36
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs72761442
rs72761442 		1.000 0.040 5 61400496 intron variant A/G snv 0.18
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs72761442
rs72761442 		1.000 0.040 5 61400496 intron variant A/G snv 0.18
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs74320437
rs74320437 		5 61447778 intron variant C/T snv 0.17
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs74419120
rs74419120 		5 61447591 intron variant C/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs7714712
rs7714712 		5 61436725 intron variant C/A snv 0.37
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs7719676
rs7719676 		1.000 0.040 5 61441122 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7720894
rs7720894 		5 61438106 intron variant G/C snv 0.63
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs78922867
rs78922867 		5 61501931 intron variant G/C snv 8.5E-03
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1554041295
rs1554041295 		0.925 0.160 5 61541917 stop gained C/T snv
CUI: C4693405
Disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES 		0.700 0