Variant Results

or

Results for "TSNAX-DISC1"

Variant Events: 31

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

TSNAX-DISC1

2-0238-004

chr1:
232160740-232160740

C

G

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

2-1231-003

chr1:
231986431-231986431

G

A

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

TSNAX-DISC1

AU2000304

chr1:
231913663-231913663

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

AU2427302

chr1:
231748730-231748730

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

AU2863302

chr1:
232000135-232000135

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

AU4069301

chr1:
231945661-231945668

TCAAACAA

TCAA

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

2-1146-003

chr1:
231923339-231923339

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

SP0044941

chr1:
232172421-232172421

C

T

ncRNA_intronic

De novo

-

Fu2022 E

TSNAX-DISC1

11194.p1

chr1:
231818651-231818651

G

C

ncRNA_intronic

De novo

-

Turner2016 G

TSNAX-DISC1

12011.p1

chr1:
232094469-232094469

T

C

ncRNA_intronic

De novo

-

Turner2016 G

TSNAX-DISC1

AU031003

chr1:
231897417-231897417

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

3-0431-000

chr1:
231692133-231692133

A

C

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

TSNAX-DISC1

7-0024-005

chr1:
231788232-231788235

TAAC

T

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

1-0593-003

chr1:
232031747-232031747

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

2-0323-003

chr1:
231970186-231970188

AAG

A

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

AU2333302

chr1:
231961410-231961410

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

AU3368302

chr1:
232113154-232113154

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

1-0382-003

chr1:
232091305-232091305

G

A

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

1-0629-003

chr1:
231691499-231691499

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

7-0024-003

chr1:
231788232-231788235

TAAC

T

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

2-1518-003

chr1:
231892496-231892496

A

C

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

74-0352

chr1:
231774214-231774214

T

C

ncRNA_intronic

De novo

-

Michaelson2012 G

TSNAX-DISC1

2-1690-003

chr1:
231823970-231823987

ATGTGTGTGTGTGTGTGT

ATGTGTGTGTGTGTGT

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

AU4212303

chr1:
231967051-231967051

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

2-1409-003

chr1:
231993540-231993540

C

A

ncRNA_intronic

De novo

-

Yuen2016 G
Yuen2017 G

TSNAX-DISC1

AU3806304

chr1:
232153030-232153036

AGAGGAG

AGAG

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

7-0161-003

chr1:
232003282-232003282

T

C

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

2-0270-003

chr1:
232112089-232112089

C

T

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

2-1105-003

chr1:
231774102-231774120

TTTGTTGTTGTTGTTGTTG

TTTGTTGTTGTTGTTG

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

2-0299-003

chr1:
231792416-231792416

G

C

ncRNA_intronic

De novo

-

Yuen2017 G

TSNAX-DISC1

AU031203

chr1:
231824889-231824889

G

T

ncRNA_intronic

De novo

-

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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