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: rs139640763
rs139640763
1.000 0.080 15 51002562 missense variant G/A snv 4.0E-05 1.4E-04
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs141278078
rs141278078
1.000 0.080 15 50999099 missense variant C/T snv 5.1E-04 2.6E-04
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs200678853
rs200678853
1.000 0.080 15 50949933 missense variant C/T snv 2.0E-04 9.8E-05
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs372479885
rs372479885
1.000 0.080 15 50941475 missense variant C/T snv 4.0E-06 5.6E-05
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs536656846
rs536656846
1.000 0.080 15 50934686 missense variant A/G snv 1.9E-04 9.1E-05
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs542940704
rs542940704
1.000 0.080 15 50958567 missense variant A/G;T snv 2.4E-04
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs550237440
rs550237440
1.000 0.080 15 51002514 missense variant T/G snv 7.6E-05 2.8E-05
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs556450190
rs556450190
1.000 0.080 15 50997380 missense variant G/A snv 2.5E-05 1.7E-04
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs566579877
rs566579877
1.000 0.080 15 50915511 missense variant T/G snv 6.0E-05 2.1E-05
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs760021635
rs760021635
1.000 0.080 15 50958492 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs148499164
rs148499164
1.000 0.080 15 50929079 missense variant C/A snv 3.6E-04 5.1E-04
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555462184
rs1555462184
1.000 0.080 15 50993510 frameshift variant -/TA delins
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1567230528
rs1567230528
1.000 15 50949824 splice acceptor variant A/C snv
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
0.700 0
dbSNP: rs1567230528
rs1567230528
1.000 15 50949824 splice acceptor variant A/C snv
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs754944429
rs754944429
1.000 0.080 15 50997722 frameshift variant -/TATGT ins 3.2E-05; 8.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs766696884
rs766696884
1.000 0.080 15 50968278 missense variant T/C snv 8.0E-06 2.1E-05
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs767423538
rs767423538
1.000 0.080 15 51001168 missense variant A/G;T snv 9.6E-05
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs780520338
rs780520338
1.000 0.080 15 50997692 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs866266998
rs866266998
1.000 0.080 15 50941750 missense variant A/G snv
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1313275799
rs1313275799
1.000 0.080 15 51002561 stop gained C/T snv 4.0E-06
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1313275799
rs1313275799
1.000 0.080 15 51002561 stop gained C/T snv 4.0E-06
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections
Infections 0.010 1.000 1 2013 2013
dbSNP: rs556450190
rs556450190
1.000 0.080 15 50997380 missense variant G/A snv 2.5E-05 1.7E-04
CUI: C0751529
Disease: Stuttering, Developmental
Stuttering, Developmental
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs556450190
rs556450190
1.000 0.080 15 50997380 missense variant G/A snv 2.5E-05 1.7E-04
CUI: C0038506
Disease: Stuttering
Stuttering
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs760021635
rs760021635
1.000 0.080 15 50958492 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C0038506
Disease: Stuttering
Stuttering
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs760021635
rs760021635
1.000 0.080 15 50958492 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C0751529
Disease: Stuttering, Developmental
Stuttering, Developmental
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015