SPTAN1, spectrin alpha, non-erythrocytic 1, 6709

N. diseases: 82; N. variants: 20
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: rs587784440
rs587784440
0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs143166100
rs143166100
1.000 0.040 9 128607988 missense variant C/G snv 5.7E-04 5.4E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1441152520
rs1441152520
1.000 0.040 9 128632218 missense variant A/G snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1554759745
rs1554759745
1.000 0.040 9 128611792 missense variant G/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs569997507
rs569997507
1.000 0.040 9 128604371 missense variant C/T snv 4.0E-05 4.2E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs780658554
rs780658554
1.000 0.040 9 128584312 missense variant C/T snv 3.2E-05 3.5E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic
Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1554769022
rs1554769022
1.000 9 128632307 missense variant C/G snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.700 0
dbSNP: rs1554769099
rs1554769099
1.000 0.040 9 128632483 missense variant A/G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
Nervous System Diseases 0.700 0
dbSNP: rs1554770453
rs1554770453
1.000 0.120 9 128633773 frameshift variant AGGTCCTCAGCTTCCC/- delins
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554770620
rs1554770620
1.000 0.080 9 128633958 missense variant T/G snv
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1564197227
rs1564197227
1.000 9 128568850 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.700 0
dbSNP: rs1564286708
rs1564286708
1.000 9 128611753 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.700 0
dbSNP: rs398122865
rs398122865
1.000 9 128627413 inframe deletion AGC/- delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.700 0
dbSNP: rs431905519
rs431905519
1.000 9 128633813 frameshift variant TG/- delins 3.5E-05
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
0.700 0
dbSNP: rs587784438
rs587784438
1.000 9 128627423 inframe deletion GAG/- delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.700 0
dbSNP: rs587784440
rs587784440
0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
0.700 0
dbSNP: rs587784440
rs587784440
0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial
Nervous System Diseases 0.700 0
dbSNP: rs751323441
rs751323441
1.000 0.120 9 128633875 stop gained G/A snv 8.0E-06
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs77358650
rs77358650
9 128580928 missense variant G/A snv 5.2E-03 1.8E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.700 0
dbSNP: rs796053335
rs796053335
1.000 0.040 9 128632280 protein altering variant -/GCATGC delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs776878433
rs776878433
0.925 0.160 9 128566833 synonymous variant A/G snv 2.0E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2014 2015
dbSNP: rs370304886
rs370304886
9 128582740 missense variant G/A;C snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2012 2012
dbSNP: rs776878433
rs776878433
0.925 0.160 9 128566833 synonymous variant A/G snv 2.0E-05
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015