Variant Results

or

Results for "SEMA3D"

Variant Events: 111

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

SEMA3D

AU076704

chr7:
86205241-86205241

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

7-0450-003

chr7:
84701816-84701816

A

C

intronic

De novo

-

Trost2022 G

SEMA3D

1-0092-004

chr7:
86124361-86124361

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0439-003

chr7:
85902243-85902243

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA3D

AU4336301

chr7:
85140722-85140722

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

SJD_66.3

chr7:
84708404-84708404

C

T

intronic

De novo

-

Trost2022 G

SEMA3D

4-0014-003

chr7:
84674887-84674887

T

C

intronic

De novo

-

Trost2022 G

SEMA3D

AU3885305

chr7:
85212673-85212673

C

G

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU2320301

chr7:
84689419-84689419

A

C

intronic

De novo

-

Trost2022 G

SEMA3D

AU004403

chr7:
84651010-84651010

A

C

intronic

De novo

-

Trost2022 G

SEMA3D

AU2320301

chr7:
84654495-84654495

T

G

intronic

De novo

-

Trost2022 G

SEMA3D

1-0169-004

chr7:
85747062-85747062

A

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0098-003A

chr7:
84635091-84635092

AC

A

intronic

De novo

-

Trost2022 G

SEMA3D

1-0057-003

chr7:
84742884-84742884

G

C

intronic

De novo

-

Trost2022 G

SEMA3D

AU066404

chr7:
86085495-86085495

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU0780301

chr7:
84996258-84996258

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0336-004

chr7:
84742884-84742884

G

C

intronic

De novo

-

Trost2022 G

SEMA3D

AU0780301

chr7:
85058257-85058257

A

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-0307-004

chr7:
84742878-84742878

A

G

intronic

De novo

-

Trost2022 G

SEMA3D

1-0565-003

chr7:
84742878-84742878

A

G

intronic

De novo

-

Trost2022 G

SEMA3D

1-0057-003

chr7:
84742878-84742878

A

G

intronic

De novo

-

Trost2022 G

SEMA3D

1-0336-004

chr7:
84742878-84742878

A

G

intronic

De novo

-

Trost2022 G

SEMA3D

2-1521-003

chr7:
84865595-84865595

T

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

REACH000668

chr7:
84722382-84722382

A

G

intronic

De novo

-

Trost2022 G

SEMA3D

1-0271-003

chr7:
84742878-84742878

A

G

intronic

De novo

-

Trost2022 G

SEMA3D

2-0144-003

chr7:
84742921-84742924

TACT

AAAAAAAAAAA

intronic

De novo

-

Trost2022 G

SEMA3D

2-0242-004

chr7:
84742921-84742924

TACT

AAAAAAAAAAA

intronic

De novo

-

Trost2022 G

SEMA3D

2-0307-004

chr7:
84742884-84742884

G

C

intronic

De novo

-

Trost2022 G

SEMA3D

1-0565-003

chr7:
84742884-84742884

G

C

intronic

De novo

-

Trost2022 G

SEMA3D

AU4150301

chr7:
85191933-85191933

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU4235302

chr7:
85865149-85865149

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

CA06A

chr7:
84666353-84666354

GA

G

intronic

De novo

-

0.0011

Fu2022 E

SEMA3D

AU2248302

chr7:
86163415-86163415

G

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1507-003

chr7:
85950091-85950091

C

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU3913301

chr7:
85669570-85669570

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU2569303

chr7:
85434741-85434741

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-0198-005

chr7:
84676943-84676944

AT

A

intronic

De novo

-

Yuen2017 G

SEMA3D

1-0067-005

chr7:
86190975-86190975

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1265-003

chr7:
85316967-85316967

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA3D

2-1721-003

chr7:
84848040-84848040

C

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0214-003

chr7:
85589297-85589297

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0447-003

chr7:
84676220-84676220

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

AU2140306

chr7:
85123911-85123911

G

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1505-004

chr7:
85852468-85852468

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-0116-004

chr7:
84654398-84654399

GT

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

1-0441-003

chr7:
85139147-85139147

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0636-003

chr7:
86263694-86263694

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU3918301

chr7:
85872878-85872878

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

7-0188-003

chr7:
85310099-85310099

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

7-0188-003

chr7:
85520382-85520382

A

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU000704

chr7:
85421050-85421050

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0560-003

chr7:
84842919-84842923

AGTGT

AGT

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1617-003

chr7:
86000170-86000170

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU000704

chr7:
86054974-86054974

G

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1168-003

chr7:
85470892-85470892

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA3D

AU012803

chr7:
85563855-85563855

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1168-003

chr7:
85958245-85958245

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA3D

2-1168-003

chr7:
86075008-86075008

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA3D

AU3263302

chr7:
86024144-86024144

T

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0051-004

chr7:
85404492-85404492

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0197-003

chr7:
85449429-85449429

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3D

5-0018-003

chr7:
84743483-84743483

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

3-0065-000

chr7:
86164581-86164581

G

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

A2

chr7:
85860431-85860431

A

T

intergenic

De novo

-

Wu2018 G

SEMA3D

2-1138-003

chr7:
85903188-85903188

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

7-0161-003

chr7:
85510591-85510591

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0898-003

chr7:
85206894-85206894

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

3-0482-000

chr7:
85342162-85342162

C

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU3154301

chr7:
85837958-85837958

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

SP0142891

chr7:
84644589-84644589

T

C

intronic

De novo

-

Fu2022 E

SEMA3D

AU3702306

chr7:
85088330-85088330

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1258-004

chr7:
85808527-85808528

AG

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU4392302

chr7:
86214580-86214580

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1429-004

chr7:
85475188-85475188

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU4246304

chr7:
85287337-85287337

C

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

5-0111-003

chr7:
84726699-84726699

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

7-0222-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

AU3302302

chr7:
85147565-85147565

A

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU3692302

chr7:
85418632-85418632

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU4032307

chr7:
84632223-84632223

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

11572.p1

chr7:
85556025-85556025

T

C

intergenic

De novo

-

Turner2016 G

SEMA3D

2-1370-003

chr7:
84910704-84910704

A

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU1952305

chr7:
85283798-85283798

T

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU076808

chr7:
85596462-85596462

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU076808

chr7:
85920910-85920913

CAAT

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU3913303

chr7:
84997548-84997548

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0067-004

chr7:
84742916-84742916

A

G

intronic

De novo

-

Yuen2017 G

SEMA3D

2-1338-003

chr7:
85071460-85071460

G

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU011704

chr7:
85220656-85220656

T

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU4089301

chr7:
85595707-85595707

A

T

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-0198-004

chr7:
84676943-84676944

AT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

AU3761302

chr7:
84705737-84705737

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

74-0117

chr7:
85220656-85220656

T

C

intergenic

De novo

-

Michaelson2012 G

SEMA3D

AU3839303

chr7:
84767103-84767106

TCCC

TCC

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1644-004

chr7:
84742940-84742940

A

G

intronic

De novo

-

Yuen2017 G

SEMA3D

AU024606

chr7:
85697021-85697021

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3D

60-2027

chr7:
85480322-85480322

T

A

intergenic

De novo

-

Michaelson2012 G

SEMA3D

2-1508-004

chr7:
84722694-84722694

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

AU079605

chr7:
84711870-84711870

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

AU2427301

chr7:
86081910-86081910

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3D

5-0103-003

chr7:
85511885-85511885

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0338-003

chr7:
84691540-84691540

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SEMA3D

A8

chr7:
86019473-86019473

G

T

intergenic

De novo

-

Wu2018 G

SEMA3D

1-0051-005

chr7:
85773555-85773555

A

G

intergenic

De novo

-

Yuen2017 G

SEMA3D

AU4250301

chr7:
85557838-85557838

A

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0051-005

chr7:
84987224-84987226

CTT

C

intergenic

De novo

-

Yuen2017 G

SEMA3D

1-0985-003

chr7:
86064476-86064476

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

5-0109-003

chr7:
85758774-85758774

G

A

intergenic

De novo

-

Yuen2017 G

SEMA3D

2-1411-003

chr7:
84646459-84646459

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SEMA3D

2-1422-003

chr7:
85459976-85459976

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SEMA3D

2-1305-003

chr7:
85948236-85948236

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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