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: rs1048512
rs1048512 		0.882 0.080 1 160025108 3 prime UTR variant G/A;T snv 0.13
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs1048512
rs1048512 		0.882 0.080 1 160025108 3 prime UTR variant G/A;T snv 0.13
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs1048512
rs1048512 		0.882 0.080 1 160025108 3 prime UTR variant G/A;T snv 0.13
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs587776528
rs587776528 		1.000 0.080 1 160032009 intron variant G/C snv
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1053074
rs1053074 		0.925 0.040 1 160039331 3 prime UTR variant A/C snv 0.46
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1053074
rs1053074 		0.925 0.040 1 160039331 3 prime UTR variant A/C snv 0.46
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2486253
rs2486253 		0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2486253
rs2486253 		0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2486253
rs2486253 		0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17375748
rs17375748 		1.000 0.040 1 160040361 3 prime UTR variant C/G;T snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs137853074
rs137853074 		1.000 0.120 1 160041491 missense variant G/A;T snv 1.8E-04
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs137853071
rs137853071 		1.000 0.200 1 160041644 missense variant G/A snv 4.0E-06
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 4 2009 2014
dbSNP: rs1130183
rs1130183 		0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2005 2013
dbSNP: rs1130183
rs1130183 		0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs1130183
rs1130183 		0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1130183
rs1130183 		0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1130183
rs1130183 		0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1130183
rs1130183 		0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1557967748
rs1557967748 		1.000 0.200 1 160041758 frameshift variant C/- delins
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137853067
rs137853067 		1.000 0.200 1 160041938 stop gained G/A snv
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137853073
rs137853073 		1.000 0.120 1 160041952 missense variant G/T snv 4.0E-06
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs137853070
rs137853070 		1.000 0.200 1 160042033 missense variant G/A snv 9.6E-06 7.0E-06
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 4 2009 2014
dbSNP: rs137853069
rs137853069 		1.000 0.200 1 160042042 missense variant G/A snv
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 4 2009 2014
dbSNP: rs137853068
rs137853068 		1.000 0.200 1 160042115 missense variant A/G snv
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 4 2009 2014
dbSNP: rs751625111
rs751625111 		1.000 0.200 1 160042148 missense variant T/A;C snv 4.3E-06
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 4 2009 2014