Variant Results

or

Results for "LOC102723427"

Variant Events: 100

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

LOC102723427

1-0286-004

chr7:
67679713-67679713

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU3997302

chr7:
68864075-68864075

C

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4433301

chr7:
68824939-68824939

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0006-004

chr7:
67759730-67759730

G

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0006-004

chr7:
68673276-68673276

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4365302

chr7:
68377390-68377390

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0272-003

chr7:
68987528-68987528

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1398-004

chr7:
69027159-69027159

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU045514

chr7:
68666675-68666675

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0265-004

chr7:
67561093-67561093

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU1521301

chr7:
67707417-67707417

T

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU3724302

chr7:
69002280-69002280

C

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4379301

chr7:
68141422-68141422

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4452302

chr7:
67809247-67809247

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU2019302

chr7:
68571051-68571051

C

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-0098-003

chr7:
69031949-69031960

ACTAGAATGGCT

ACT

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU060004

chr7:
68134258-68134258

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU3861302

chr7:
69028127-69028127

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1456-004

chr7:
67635546-67635546

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU0540301

chr7:
67566843-67566843

C

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU0540301

chr7:
68568676-68568676

T

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

5-0050-004

chr7:
67892430-67892430

G

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU060803

chr7:
67569895-67569895

T

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-0296-003

chr7:
68994729-68994729

C

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4154303

chr7:
68988122-68988129

ATATTTTT

AT

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0495-003

chr7:
68590558-68590571

CTGTGTGTGTGTGT

CTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1250-003

chr7:
67568651-67568651

A

AGAAAAGGAAGGAAGG

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0162-004

chr7:
67902221-67902223

CAG

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

7-0248-003

chr7:
68036271-68036271

C

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

7-0248-003

chr7:
68651955-68651955

T

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

7-0254-003

chr7:
68747849-68747849

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU038204

chr7:
67838594-67838594

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1430-003

chr7:
67677665-67677665

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC102723427

AU2777302

chr7:
67626680-67626680

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0080-003

chr7:
68723038-68723038

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1152-003

chr7:
68404292-68404292

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-0319-004

chr7:
68502670-68502670

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU2139303

chr7:
68041073-68041073

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1093-003

chr7:
67935180-67935180

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

7-0082-003

chr7:
67929548-67929548

C

CGAGT

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0874-003

chr7:
68227542-68227542

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

7-0188-003

chr7:
67563258-67563258

A

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4269301

chr7:
68699892-68699892

G

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4145303

chr7:
67535577-67535577

G

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

3-0439-000

chr7:
67588940-67588940

T

C

intergenic

De novo

-

Yuen2016 G

LOC102723427

1-0569-003

chr7:
68053399-68053399

A

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

7-0175-003

chr7:
68473839-68473839

G

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0569-003

chr7:
68053387-68053387

T

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1325-003

chr7:
68164238-68164238

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC102723427

2-0318-003

chr7:
67902045-67902045

C

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4060306

chr7:
68722407-68722407

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-0242-003

chr7:
68226468-68226468

G

GTT

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0148-005

chr7:
68073515-68073515

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0120-003

chr7:
68247143-68247143

T

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-0214-003

chr7:
68226468-68226468

G

GTT

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0045-004

chr7:
68423382-68423382

T

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0045-004

chr7:
68256402-68256402

T

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU3175303

chr7:
68062909-68062909

T

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0197-003

chr7:
67649824-67649824

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU060403

chr7:
68535745-68535745

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4176302

chr7:
67620869-67620869

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU3911301

chr7:
68947594-68947594

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1693-003

chr7:
67911676-67911676

T

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1283-003

chr7:
68469819-68469822

AAGG

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1277-004

chr7:
67542628-67542628

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

12795.p1

chr7:
68455986-68455986

G

A

intergenic

De novo

-

Turner2016 G

LOC102723427

2-1359-003

chr7:
68256111-68256111

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

5-0014-004

chr7:
68307098-68307098

T

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

14370.p1

chr7:
68902902-68902902

G

A

intergenic

De novo

-

Turner2016 G

LOC102723427

2-1131-003

chr7:
68046630-68046630

T

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU038703

chr7:
68174092-68174092

G

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0265-003

chr7:
67561093-67561093

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

5-0099-003

chr7:
69029908-69029908

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU2950301

chr7:
67935778-67935778

T

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0406-003

chr7:
68104422-68104422

C

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU3891304

chr7:
67970905-67970905

G

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1207-003

chr7:
68722618-68722618

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC102723427

2-1348-003

chr7:
67738821-67738823

TAA

TAAA

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0059-003

chr7:
68859899-68859899

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1620-004

chr7:
68044821-68044821

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU3790301

chr7:
68329283-68329283

C

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

A28

chr7:
68241298-68241299

CA

C

intergenic

De novo

-

Wu2018 G

LOC102723427

AU1668302

chr7:
67555084-67555084

G

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU1668302

chr7:
67758814-67758814

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

7-0119-003

chr7:
68798426-68798426

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1338-003

chr7:
68602075-68602075

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0483-003

chr7:
67798206-67798206

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LOC102723427

7-0128-003

chr7:
68556879-68556883

AAGAG

AAGAGAG

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU0638302

chr7:
68486389-68486389

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU4067301

chr7:
68192474-68192474

T

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

74-0352

chr7:
68736638-68736638

G

T

intergenic

De novo

-

Michaelson2012 G

LOC102723427

2-1644-004

chr7:
67985516-67985522

CAATCTA

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0354-003

chr7:
67517199-67517199

C

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0225-003

chr7:
68126916-68126916

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0054-003

chr7:
68168292-68168292

C

T

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0345-003

chr7:
68494529-68494529

G

A

intergenic

De novo

-

Yuen2017 G

LOC102723427

1-0486-003

chr7:
67912365-67912365

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1215-003

chr7:
67848178-67848178

G

C

intergenic

De novo

-

Yuen2017 G

LOC102723427

2-1267-003

chr7:
67551924-67551924

A

G

intergenic

De novo

-

Yuen2017 G

LOC102723427

AU1933302

chr7:
68912759-68912764

GCCCCC

GCCCC

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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