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: rs879255626
rs879255626 		1.000 5 14394102 missense variant G/A snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.800 1.000 2 2016 2016
dbSNP: rs879255627
rs879255627 		1.000 5 14397112 missense variant C/A snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.800 1.000 2 2016 2016
dbSNP: rs879255628
rs879255628 		1.000 5 14374251 missense variant A/T snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.800 1.000 2 2016 2016
dbSNP: rs1554062562
rs1554062562 		1.000 5 14359442 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 9 1996 2017
dbSNP: rs1554062562
rs1554062562 		1.000 5 14359442 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1996 2017
dbSNP: rs1554062562
rs1554062562 		1.000 5 14359442 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 1996 2017
dbSNP: rs1554062588
rs1554062588 		1.000 5 14359499 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1996 2017
dbSNP: rs1554064863
rs1554064863 		1.000 5 14369426 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1996 2017
dbSNP: rs768858988
rs768858988 		1.000 5 14498161 missense variant G/A snv 3.2E-05 4.9E-05
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 1.000 2 2016 2016
dbSNP: rs771342869
rs771342869 		1.000 5 14482717 missense variant C/G snv 4.0E-06 7.0E-06
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 1.000 2 2016 2016
dbSNP: rs115054458
rs115054458 		1.000 0.040 5 14488019 missense variant C/T snv 1.5E-03 7.4E-03
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs117297784
rs117297784 		1.000 0.040 5 14486198 intron variant A/G snv 2.2E-03
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs79775842
rs79775842 		5 14317895 intron variant G/T snv 6.8E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1057516029
rs1057516029 		0.882 0.160 5 14290809 stop gained G/T snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057516029
rs1057516029 		0.882 0.160 5 14290809 stop gained G/T snv
CUI: C0016689
Disease: Freckles
Freckles 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057516029
rs1057516029 		0.882 0.160 5 14290809 stop gained G/T snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs1057516029
rs1057516029 		0.882 0.160 5 14290809 stop gained G/T snv
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		Endocrine System Diseases 0.700 0
dbSNP: rs1057516029
rs1057516029 		0.882 0.160 5 14290809 stop gained G/T snv
CUI: C4021375
Disease: Attached earlobe
Attached earlobe 		0.700 0
dbSNP: rs1057516029
rs1057516029 		0.882 0.160 5 14290809 stop gained G/T snv
CUI: C4073210
Disease: Hyperplasia of the premaxilla
Hyperplasia of the premaxilla 		0.700 0
dbSNP: rs1258664728
rs1258664728 		1.000 5 14485152 missense variant G/C snv 8.0E-06 1.4E-05
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs1554065887
rs1554065887 		0.925 0.120 5 14374244 missense variant C/T snv
CUI: C1853276
Disease: Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 28 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554065887
rs1554065887 		0.925 0.120 5 14374244 missense variant C/T snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs756004023
rs756004023 		1.000 5 14387579 missense variant T/C snv 2.4E-05 2.1E-05
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs879255622
rs879255622 		1.000 5 14390300 stop gained G/A snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs879255623
rs879255623 		1.000 5 14387619 frameshift variant A/- del
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0