MYT1L, myelin transcription factor 1 like, 23040

N. diseases: 46; N. variants: 18
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: rs1275489527
rs1275489527 		0.882 0.120 2 1917238 missense variant C/T snv
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.710 1.000 1 2019 2019
dbSNP: rs6548123
rs6548123 		0.925 0.120 2 2221629 intron variant C/T snv 0.76
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs6548123
rs6548123 		0.925 0.120 2 2221629 intron variant C/T snv 0.76
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs6759709
rs6759709 		2 2043625 intron variant A/G snv 0.28
CUI: C0202455
Disease: Platinum measurement
Platinum measurement 		0.700 1.000 1 2019 2019
dbSNP: rs75247762
rs75247762 		2 1889361 synonymous variant C/T snv 5.9E-02 4.2E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs7584755
rs7584755 		1.000 0.040 2 1911740 intron variant C/A;T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs1057519560
rs1057519560 		1.000 2 1917264 missense variant A/G snv
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.700 0
dbSNP: rs1057519560
rs1057519560 		1.000 2 1917264 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1253072668
rs1253072668 		1.000 2 1892090 frameshift variant CAGCGCGTGG/- delins 7.0E-06
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.700 0
dbSNP: rs1553324416
rs1553324416 		1.000 2 1923008 frameshift variant -/C delins
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.700 0
dbSNP: rs1558371790
rs1558371790 		1.000 2 1912051 missense variant G/A snv
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.700 0
dbSNP: rs869320675
rs869320675 		1.000 2 1887487 splice donor variant C/T snv
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.700 0
dbSNP: rs869320676
rs869320676 		1.000 2 1903189 stop gained A/C snv
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.700 0
dbSNP: rs878853045
rs878853045 		1.000 2 1912023 missense variant C/T snv
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.700 0
dbSNP: rs10190125
rs10190125 		1.000 0.040 2 2290654 intron variant G/A snv 0.34
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs11127292
rs11127292 		0.925 0.160 2 2026171 intron variant C/T snv 0.11
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11127292
rs11127292 		0.925 0.160 2 2026171 intron variant C/T snv 0.11
CUI: C0282488
Disease: Interstitial Cystitis
Interstitial Cystitis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1275489527
rs1275489527 		0.882 0.120 2 1917238 missense variant C/T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1275489527
rs1275489527 		0.882 0.120 2 1917238 missense variant C/T snv
CUI: C0241210
Disease: Speech Delay
Speech Delay 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs17039396
rs17039396 		0.925 0.080 2 2221372 intron variant G/A snv 9.5E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs17039396
rs17039396 		0.925 0.080 2 2221372 intron variant G/A snv 9.5E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs17039584
rs17039584 		1.000 0.040 2 2333368 upstream gene variant A/G snv 0.11
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs6742365
rs6742365 		1.000 0.040 2 1790037 3 prime UTR variant T/C;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs7574869
rs7574869 		1.000 0.080 2 2221914 intron variant T/C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2010 2010