SLC5A7, solute carrier family 5 member 7, 60482

N. diseases: 127; N. variants: 12
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: rs886039768
rs886039768 		1.000 2 107988298 missense variant A/G snv
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.800 1.000 1 2016 2016
dbSNP: rs147656110
rs147656110 		1.000 2 108008651 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.800 0
dbSNP: rs886039765
rs886039765 		1.000 2 107992121 missense variant G/A snv
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.700 1.000 1 2016 2016
dbSNP: rs886039766
rs886039766 		1.000 2 107992992 missense variant C/T snv
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.700 1.000 1 2016 2016
dbSNP: rs1331713195
rs1331713195 		1.000 2 107997913 missense variant A/G snv
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.700 0
dbSNP: rs1558872865
rs1558872865 		1.000 0.200 2 108010615 frameshift variant G/- del
CUI: C1834703
Disease: Neuropathy, Distal Hereditary Motor, Type VIIA
Neuropathy, Distal Hereditary Motor, Type VIIA 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs375397889
rs375397889 		1.000 2 108006179 missense variant T/C snv 5.6E-05 3.5E-05
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.700 0
dbSNP: rs886039767
rs886039767 		1.000 2 107988277 frameshift variant CATC/- delins
CUI: C4310694
Disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 		0.700 0
dbSNP: rs1013940
rs1013940 		0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs1013940
rs1013940 		0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1013940
rs1013940 		0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs1013940
rs1013940 		0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2008 2008
dbSNP: rs1013940
rs1013940 		0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1013940
rs1013940 		0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02
CUI: C0221480
Disease: Recurrent depression
Recurrent depression 		Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1259002559
rs1259002559 		0.925 0.120 2 108006095 missense variant C/T snv 4.0E-06
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1259002559
rs1259002559 		0.925 0.120 2 108006095 missense variant C/T snv 4.0E-06
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2433718
rs2433718 		1.000 0.120 2 107986975 intron variant A/G snv 0.82
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs4676169
rs4676169 		1.000 0.120 2 107993689 intron variant A/G snv 0.46
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017