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: rs587777027
rs587777027 		1.000 20 45419348 missense variant A/C;G snv
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.800 1.000 1 2013 2013
dbSNP: rs200790673
rs200790673 		1.000 20 45419293 splice acceptor variant A/G snv 5.2E-05 6.3E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 1.000 2 2014 2016
dbSNP: rs527236031
rs527236031 		0.882 0.080 20 45424323 missense variant C/T snv 1.6E-05 4.2E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 1.000 2 2014 2016
dbSNP: rs184392658
rs184392658 		20 45438925 intron variant T/C snv 3.0E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs184392658
rs184392658 		20 45438925 intron variant T/C snv 3.0E-03
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1277383877
rs1277383877 		0.925 20 45421428 missense variant G/T snv 7.0E-06
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs1277383877
rs1277383877 		0.925 20 45421428 missense variant G/T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1277383877
rs1277383877 		0.925 20 45421428 missense variant G/T snv 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555876283
rs1555876283 		0.925 0.080 20 45416526 frameshift variant A/- del
CUI: C1859495
Disease: Episodic hemolytic anemia
Episodic hemolytic anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555876283
rs1555876283 		0.925 0.080 20 45416526 frameshift variant A/- del
CUI: C0746495
Disease: Recurrent meningitis
Recurrent meningitis 		Infections; Nervous System Diseases 0.700 0
dbSNP: rs1555876283
rs1555876283 		0.925 0.080 20 45416526 frameshift variant A/- del
CUI: C3809369
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 		0.700 0
dbSNP: rs1555876283
rs1555876283 		0.925 0.080 20 45416526 frameshift variant A/- del
CUI: C0003862
Disease: Arthralgia
Arthralgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 0
dbSNP: rs1555876283
rs1555876283 		0.925 0.080 20 45416526 frameshift variant A/- del
CUI: C0231528
Disease: Myalgia
Myalgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs527236032
rs527236032 		1.000 20 45420578 frameshift variant -/T ins
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs571714796
rs571714796 		1.000 20 45421445 missense variant G/A;T snv 4.0E-06
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs587777028
rs587777028 		1.000 20 45424494 splice acceptor variant A/G snv
CUI: C3809369
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 		0.700 0
dbSNP: rs751861982
rs751861982 		1.000 20 45420577 frameshift variant -/C delins 3.6E-05 4.9E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs756632799
rs756632799 		0.882 0.080 20 45416579 stop gained G/T snv 1.6E-05 7.0E-06
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs763009552
rs763009552 		1.000 20 45416213 frameshift variant C/- del
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs771157170
rs771157170 		1.000 20 45425671 missense variant G/A;T snv 9.9E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs774753616
rs774753616 		1.000 20 45419351 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C3809356
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 		0.700 0
dbSNP: rs776974834
rs776974834 		0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06
CUI: C0343065
Disease: Dermatographic urticaria
Dermatographic urticaria 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs776974834
rs776974834 		0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06
CUI: C0003862
Disease: Arthralgia
Arthralgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.700 0
dbSNP: rs776974834
rs776974834 		0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06
CUI: C0746495
Disease: Recurrent meningitis
Recurrent meningitis 		Infections; Nervous System Diseases 0.700 0
dbSNP: rs776974834
rs776974834 		0.882 0.160 20 45420215 frameshift variant AAAG/- delins 1.2E-05 7.0E-06
CUI: C3809369
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 		0.700 0