Variant Results

or

Results for "EDIL3"

Variant Events: 108

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

EDIL3

1-0265-004

chr5:
84953716-84953716

T

TC

intergenic

De novo

-

Yuen2017 G

EDIL3

08C78430

chr5:
83550047-83550047

A

T

intronic

De novo

-

Satterstrom2020 E

EDIL3

AU072004

chr5:
85482153-85482153

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

7-0143-003

chr5:
85083069-85083069

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

AU2792301

chr5:
84724890-84724890

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU2988302

chr5:
83476813-83476813

C

T

intronic

De novo

-

Yuen2017 G

EDIL3

7-0151-003

chr5:
84858385-84858385

A

G

intergenic

De novo

-

Yuen2017 G

EDIL3

2-0242-005

chr5:
84953716-84953716

T

TC

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1134-003

chr5:
84504733-84504733

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU4379301

chr5:
83669297-83669297

A

C

intronic

De novo

-

Yuen2017 G

EDIL3

1-0551-004

chr5:
84953716-84953716

T

TC

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1339-003

chr5:
84401909-84401909

C

CT

intergenic

De novo

-

Yuen2017 G

EDIL3

AU056803

chr5:
83535045-83535045

G

A

intronic

De novo

-

Yuen2017 G

EDIL3

2-1254-003

chr5:
83786051-83786051

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

11030.p1

chr5:
83573296-83573301

TTTATA

T

intronic

Unknown

-

Werling2018 G

EDIL3

AU4473301

chr5:
83445927-83445927

C

T

intronic

De novo

-

Yuen2017 G

EDIL3

AU0452303

chr5:
84741188-84741188

A

G

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1594-003

chr5:
83892432-83892432

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

AU2863303

chr5:
83447113-83447113

A

C

intronic

De novo

-

Yuen2017 G

EDIL3

7-0104-003

chr5:
83418036-83418036

T

C

intronic

De novo

-

Yuen2017 G

EDIL3

3-0438-000

chr5:
85470428-85470428

T

A

intergenic

De novo

-

Yuen2016 G

EDIL3

5-0131-003

chr5:
83826105-83826105

A

G

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0382-003

chr5:
83690690-83690690

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU024104

chr5:
84170013-84170013

T

G

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0441-003

chr5:
83273863-83273863

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EDIL3

1-0408-003

chr5:
85376742-85376742

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

EDIL3

2-0713-003

chr5:
85120711-85120711

C

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU038204

chr5:
83708796-83708796

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

AU2140306

chr5:
85066860-85066860

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0186-005

chr5:
84641754-84641754

A

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU024608

chr5:
84363652-84363652

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU4372309

chr5:
85235994-85235994

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU079104

chr5:
84477320-84477320

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

5-0110-003

chr5:
84573899-84573899

T

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU3866301

chr5:
83875641-83875641

C

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU2975301

chr5:
85461311-85461313

GAA

GAAA

intergenic

De novo

-

Yuen2017 G

EDIL3

7-0219-003

chr5:
84348994-84348994

T

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU2089302

chr5:
84227683-84227683

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1222-003

chr5:
84510682-84510682

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

AU4032306

chr5:
83834057-83834057

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0384-003

chr5:
84022291-84022291

A

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU056204

chr5:
85069956-85069956

G

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU046703

chr5:
83414737-83414737

C

T

intronic

De novo

-

Yuen2017 G

EDIL3

2-0278-003

chr5:
83830410-83830410

T

A

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0453-003

chr5:
84045997-84045997

C

A

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0627-005

chr5:
84292576-84292576

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0353-003

chr5:
84555101-84555105

TACTC

T

intergenic

De novo

-

Yuen2017 G

EDIL3

3-0065-000

chr5:
85344628-85344634

CAAAAAA

CAAAAAAA

intergenic

De novo

-

Yuen2017 G

EDIL3

7-0008-003

chr5:
85307309-85307309

A

C

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0296-004

chr5:
84739551-84739551

T

A

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0531-003

chr5:
84877646-84877646

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

EDIL3

1-0028-003

chr5:
85067797-85067797

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU060403

chr5:
84259143-84259143

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

A2

chr5:
83918659-83918659

A

G

intergenic

De novo

-

Wu2018 G

EDIL3

2-1431-003

chr5:
84826026-84826026

T

A

intergenic

De novo

-

Yuen2016 G

EDIL3

1-0184-003

chr5:
84560046-84560046

T

A

intergenic

De novo

-

Yuen2017 G

EDIL3

2-0006-003

chr5:
84867637-84867637

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

AU3398301

chr5:
84833785-84833785

G

C

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0153-004

chr5:
84953716-84953716

T

TC

intergenic

De novo

-

Yuen2017 G

EDIL3

AU036203

chr5:
83623996-83623996

T

C

intronic

De novo

-

Yuen2017 G

EDIL3

NDAR_INVEB022VLQ_wes1

chr5:
83433140-83433140

T

G

exonic

De novo

nonsynonymous SNV

NM_001278642
NM_005711

c.A358C
c.A388C

p.N120H
p.N130H

23.3

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

EDIL3

74-0352

chr5:
85066652-85066652

A

G

intergenic

De novo

-

Michaelson2012 G

EDIL3

2-1297-003

chr5:
84953716-84953716

T

TC

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0052-004

chr5:
85408728-85408728

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1591-003

chr5:
83704923-83704923

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU3051302

chr5:
85348365-85348365

C

A

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0572-003

chr5:
83918863-83918863

A

T

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0406-003

chr5:
85528810-85528810

A

C

intergenic

De novo

-

Yuen2017 G

EDIL3

5-0133-003

chr5:
85041850-85041850

A

G

intergenic

De novo

-

Yuen2017 G

EDIL3

AU4310301

chr5:
84175203-84175203

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1525-003

chr5:
83453380-83453380

A

T

intronic

De novo

-

Yuen2017 G

EDIL3

AU1668302

chr5:
83275737-83275737

C

CA

intronic

De novo

-

Yuen2017 G

EDIL3

AU4228301

chr5:
83781531-83781531

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1402-003

chr5:
85106538-85106538

C

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU3646301

chr5:
85200862-85200862

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0067-004

chr5:
84105084-84105085

GA

G

intergenic

De novo

-

Yuen2017 G

EDIL3

AU056604

chr5:
84640039-84640039

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1440-003

chr5:
84973115-84973115

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

EDIL3

2-0142-003

chr5:
85091867-85091867

T

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU2863302

chr5:
84509478-84509478

A

G

intergenic

De novo

-

Yuen2017 G

EDIL3

7-0149-003

chr5:
85032818-85032818

A

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU3368303

chr5:
84261398-84261398

G

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU2293301

chr5:
84009540-84009540

T

G

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0073-003

chr5:
83274203-83274203

T

C

intronic

De novo

-

Yuen2017 G

EDIL3

AU4093301

chr5:
84039018-84039018

T

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU048206

chr5:
85311335-85311335

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

7-0166-003

chr5:
83296088-83296093

TGTAGT

TGT

intronic

De novo

-

Yuen2017 G

EDIL3

2-0305-004

chr5:
84446739-84446739

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU1795301

chr5:
83995790-83995790

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1529-003

chr5:
85410195-85410195

A

G

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1529-003

chr5:
85370196-85370210

CAGAGAGAGAGAGAG

CAGAGAGAGAGAG

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0051-005

chr5:
84739650-84739650

C

CATCCTGGTTAAAAAGCATCCTGGTTAAAAAGCATAA

intergenic

De novo

-

Yuen2017 G

EDIL3

AU024004

chr5:
84101245-84101245

G

C

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1605-004

chr5:
85163928-85163928

G

A

intergenic

De novo

-

Yuen2017 G

EDIL3

AU2072302

chr5:
84254911-84254911

C

T

intergenic

De novo

-

Yuen2017 G

EDIL3

11456.p1

chr5:
84083977-84083977

G

A

intergenic

De novo

-

Turner2016 G

EDIL3

13515.p1

chr5:
84793489-84793489

T

A

intergenic

De novo

-

Turner2016 G

EDIL3

2-1371-003

chr5:
84360187-84360187

G

T

intergenic

De novo

-

Yuen2017 G

EDIL3

13023.p1

chr5:
85428835-85428835

G

T

intergenic

De novo

-

Turner2016 G

EDIL3

AU4394302

chr5:
83334034-83334034

C

T

intronic

De novo

-

Yuen2017 G

EDIL3

1-0338-003

chr5:
83968511-83968511

T

TTGAGG

intergenic

De novo

-

Yuen2017 G

EDIL3

5-0123-003

chr5:
83962862-83962862

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

2-1267-003

chr5:
84953716-84953716

T

TC

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0144-005

chr5:
83312068-83312068

C

T

intronic

De novo

-

Yuen2017 G

EDIL3

2-1461-003

chr5:
83835306-83835306

A

G

intergenic

De novo

-

Yuen2017 G

EDIL3

1-0383-003

chr5:
83741034-83741051

AAGAGAGAGAGAGAGAGA

AAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

EDIL3

2-0018-004

chr5:
84188568-84188568

T

C

intergenic

De novo

-

Yuen2017 G

EDIL3

AU058104

chr5:
84409045-84409045

C

A

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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