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: rs1555745467
rs1555745467 		0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555745467
rs1555745467 		0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0018621
Disease: Hay fever
Hay fever 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1555745467
rs1555745467 		0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0011175
Disease: Dehydration
Dehydration 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1164174661
rs1164174661 		0.925 0.120 19 13283358 missense variant T/C snv
CUI: C0338487
Disease: Benign paroxysmal vertigo of childhood
Benign paroxysmal vertigo of childhood 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2074880
rs2074880 		1.000 0.120 19 13261817 non coding transcript exon variant A/C snv 0.29
CUI: C0155502
Disease: Benign Paroxysmal Positional Vertigo
Benign Paroxysmal Positional Vertigo 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121908216
rs121908216 		0.882 0.200 19 13235702 missense variant C/T snv
CUI: C0042571
Disease: Vertigo
Vertigo 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs786200963
rs786200963 		0.827 0.200 19 13371683 splice region variant C/T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs121908216
rs121908216 		0.882 0.200 19 13235702 missense variant C/T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945 		0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 46 1988 2017
dbSNP: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.830 1.000 13 1996 2018
dbSNP: rs121908213
rs121908213 		1.000 0.080 19 13303580 missense variant A/G snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.820 1.000 12 1996 2017
dbSNP: rs121908214
rs121908214 		0.925 0.080 19 13230185 missense variant T/G snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.820 1.000 12 1996 2017
dbSNP: rs121908211
rs121908211 		0.882 0.080 19 13371744 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.810 1.000 11 1996 2017
dbSNP: rs121908225
rs121908225 		0.790 0.120 19 13365448 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.820 1.000 11 1996 2017
dbSNP: rs121908217
rs121908217 		0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908218
rs121908218 		0.925 0.080 19 13303576 missense variant G/A;C;T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908219
rs121908219 		1.000 0.080 19 13261552 missense variant T/C snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908220
rs121908220 		0.925 0.120 19 13235685 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908221
rs121908221 		1.000 0.080 19 13235637 missense variant A/G snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1996 2017
dbSNP: rs121908222
rs121908222 		1.000 0.080 19 13371735 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1996 2017
dbSNP: rs121908223
rs121908223 		0.925 0.080 19 13262823 missense variant T/C snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1996 2017
dbSNP: rs121908224
rs121908224 		1.000 0.080 19 13235262 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1996 2017
dbSNP: rs121908230
rs121908230 		0.882 0.080 19 13262789 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017