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: rs201119959
rs201119959 		1.000 X 15331315 missense variant T/A;C snv 1.6E-05
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.800 1.000 5 2012 2016
dbSNP: rs587777396
rs587777396 		1.000 X 15331576 missense variant G/A snv
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.800 1.000 5 2012 2016
dbSNP: rs587777398
rs587777398 		1.000 X 15331701 missense variant C/A;T snv
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.800 1.000 5 2012 2016
dbSNP: rs587777400
rs587777400 		1.000 X 15331653 missense variant G/A snv
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.800 1.000 5 2012 2016
dbSNP: rs34422225
rs34422225 		0.925 0.040 X 15331876 missense variant G/A snv 3.0E-02 3.1E-02
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 1.000 5 1993 2002
dbSNP: rs1060499625
rs1060499625 		1.000 X 15331536 missense variant G/C snv
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.700 0
dbSNP: rs1060499666
rs1060499666 		1.000 X 15324670 missense variant C/T snv
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.700 0
dbSNP: rs1555945553
rs1555945553 		1.000 X 15331875 missense variant C/T snv
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.700 0
dbSNP: rs199422232
rs199422232 		1.000 X 15331637 stop gained G/T snv
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 0
dbSNP: rs199422233
rs199422233 		1.000 X 15331768 stop gained G/A snv
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 0
dbSNP: rs387906726
rs387906726 		0.925 0.040 X 15321727 stop gained G/A snv
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.700 0
dbSNP: rs587776723
rs587776723 		1.000 X 15324663 splice donor variant A/- del
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 0
dbSNP: rs587776724
rs587776724 		1.000 X 15331471 frameshift variant -/T ins
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 0
dbSNP: rs587776725
rs587776725 		1.000 X 15324738 frameshift variant G/- delins
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 0
dbSNP: rs587776726
rs587776726 		1.000 X 15331681 frameshift variant -/AC ins
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 0
dbSNP: rs587776727
rs587776727 		1.000 X 15331500 frameshift variant G/- del
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 0
dbSNP: rs587776728
rs587776728 		1.000 X 15321637 frameshift variant GA/- delins
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 0
dbSNP: rs587777397
rs587777397 		1.000 X 15331854 frameshift variant -/A delins
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.700 0
dbSNP: rs587777399
rs587777399 		1.000 X 15324821 inframe deletion AAG/- del
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.700 0
dbSNP: rs786200912
rs786200912 		1.000 X 15321605 stop gained -/TTTCAATGATAGAATCTGGAGTCATCCATCTCAA delins
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.700 0
dbSNP: rs1445335859
rs1445335859 		0.851 0.240 X 15331662 missense variant T/C snv 9.4E-06
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1445335859
rs1445335859 		0.851 0.240 X 15331662 missense variant T/C snv 9.4E-06
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1445335859
rs1445335859 		0.851 0.240 X 15331662 missense variant T/C snv 9.4E-06
CUI: C0018378
Disease: Guillain-Barre Syndrome
Guillain-Barre Syndrome 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1445335859
rs1445335859 		0.851 0.240 X 15331662 missense variant T/C snv 9.4E-06
CUI: C0393819
Disease: Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1445335859
rs1445335859 		0.851 0.240 X 15331662 missense variant T/C snv 9.4E-06
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015