Variant Results

or

Results for "SMIM30"

Variant Events: 36

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

SMIM30

1-0206-005

chr7:
112955271-112955271

A

C

intergenic

De novo

-

Yuen2017 G

SMIM30

AU3984301

chr7:
113374520-113374520

A

G

intergenic

De novo

-

Yuen2017 G

SMIM30

1-0483-003

chr7:
113244807-113244807

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SMIM30

AU3764302

chr7:
113008975-113008975

T

C

intergenic

De novo

-

Yuen2017 G

SMIM30

AU4211304

chr7:
113016207-113016207

T

G

intergenic

De novo

-

Yuen2017 G

SMIM30

1-0567-004

chr7:
113449756-113449756

C

T

intergenic

De novo

-

Yuen2017 G

SMIM30

AU0146301

chr7:
113365102-113365102

T

C

intergenic

De novo

-

Yuen2017 G

SMIM30

1-0196-005

chr7:
113026496-113026496

T

C

intergenic

De novo

-

Yuen2017 G

SMIM30

AU3649304

chr7:
112908977-112908977

G

A

intergenic

De novo

-

Yuen2017 G

SMIM30

AU4089302

chr7:
113367653-113367653

G

A

intergenic

De novo

-

Yuen2017 G

SMIM30

1-0978-003

chr7:
113204997-113205001

CATAT

CAT

intergenic

De novo

-

Yuen2017 G

SMIM30

AU3905302

chr7:
113510018-113510018

T

C

intergenic

De novo

-

Yuen2017 G

SMIM30

AU2293301

chr7:
112759080-112759084

CATAT

CAT

upstream

De novo

-

Yuen2017 G

SMIM30

1-0579-003

chr7:
113030751-113030751

G

T

intergenic

De novo

-

Yuen2017 G

SMIM30

2-0135-003

chr7:
113209116-113209116

C

T

intergenic

De novo

-

Yuen2017 G

SMIM30

AU076705

chr7:
113488362-113488362

T

G

intergenic

De novo

-

Yuen2017 G

SMIM30

12568.p1

chr7:
113489947-113489947

T

C

intergenic

De novo

-

Turner2016 G

SMIM30

AU2525302

chr7:
113058247-113058247

C

G

intergenic

De novo

-

Yuen2017 G

SMIM30

1-0043-003

chr7:
113329469-113329469

A

AAT

intergenic

De novo

-

Yuen2017 G

SMIM30

AU4072303

chr7:
113081729-113081729

A

G

intergenic

De novo

-

Yuen2017 G

SMIM30

7-0167-003

chr7:
113120893-113120893

G

A

intergenic

De novo

-

Yuen2017 G

SMIM30

AU1725302

chr7:
113321803-113321803

A

G

intergenic

De novo

-

Yuen2017 G

SMIM30

AU0146302

chr7:
113217398-113217398

T

C

intergenic

De novo

-

Yuen2017 G

SMIM30

2-1364-003

chr7:
113221245-113221245

C

T

intergenic

De novo

-

Yuen2017 G

SMIM30

2-1160-003

chr7:
112943634-112943634

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SMIM30

2-1169-004

chr7:
113513952-113513952

C

T

intergenic

De novo

-

Yuen2017 G

SMIM30

2-1337-003

chr7:
113399998-113399998

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SMIM30

1-0458-004

chr7:
112968804-112968804

A

G

intergenic

De novo

-

Yuen2017 G

SMIM30

AU063004

chr7:
112875591-112875591

G

A

intergenic

De novo

-

Yuen2017 G

SMIM30

1-0181-004

chr7:
113224292-113224293

AT

A

intergenic

De novo

-

Yuen2017 G

SMIM30

AU4173301

chr7:
112818730-112818730

T

A

intergenic

De novo

-

Yuen2017 G

SMIM30

AU4032307

chr7:
112905892-112905892

T

C

intergenic

De novo

-

Yuen2017 G

SMIM30

1-0467-005

chr7:
112937402-112937402

A

G

intergenic

De novo

-

Yuen2017 G

SMIM30

2-0135-004

chr7:
112867417-112867417

G

C

intergenic

De novo

-

Yuen2017 G

SMIM30

A10

chr7:
113146129-113146129

C

T

intergenic

De novo

-

Wu2018 G

SMIM30

1-0269-003

chr7:
113325162-113325162

A

G

intergenic

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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