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: rs864321692
rs864321692 		0.925 10 28583498 stop gained C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 2011 2016
dbSNP: rs864321692
rs864321692 		0.925 10 28583498 stop gained C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2011 2016
dbSNP: rs864321692
rs864321692 		0.925 10 28583498 stop gained C/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2011 2016
dbSNP: rs1554791943
rs1554791943 		1.000 10 28616264 stop gained C/T snv
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs1554792658
rs1554792658 		1.000 10 28619544 frameshift variant TT/- delins
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs181666690
rs181666690 		1.000 0.080 10 28563093 intron variant T/C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs2790457
rs2790457 		1.000 0.160 10 28567890 intron variant G/A snv 0.35
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1135401769
rs1135401769 		1.000 10 28590718 splice acceptor variant A/G snv
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.700 0
dbSNP: rs1135401769
rs1135401769 		1.000 10 28590718 splice acceptor variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1554791124
rs1554791124 		1.000 10 28611923 splice donor variant G/A snv
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.700 0
dbSNP: rs1554791975
rs1554791975 		1.000 10 28616363 splice donor variant G/A snv
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		Endocrine System Diseases 0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C4225239
Disease: DESANTO-SHINAWI SYNDROME
DESANTO-SHINAWI SYNDROME 		0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1564421528
rs1564421528 		0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0