Variant Results

or

Results for "IL1RL1"

Variant Events: 11

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

IL1RL1

AU064A

chr2:
102967952-102967952

G

A

intronic

De novo

-

8.0E-4

Kosmicki2017 E

IL1RL1

133-06-105345

chr2:
102959779-102959779

G

A

exonic

De novo

nonsynonymous SNV

NM_001282408
NM_003856
NM_016232

c.G523A
c.G874A
c.G874A

p.V175M
p.V292M
p.V292M

10.36

8.243E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

IL1RL1

2-1085-004

chr2:
102971708-102971708

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

IL1RL1

5-0011-003

chr2:
102953211-102953211

T

A

intronic

De novo

-

Trost2022 G

IL1RL1

DEASD_0170_001

chr2:
102965622-102965622

G

A

exonic

De novo

nonsynonymous SNV

NM_016232

c.G1201A

p.V401I

19.56

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

IL1RL1

3-0061-000

chr2:
102938320-102938320

A

G

intronic

De novo

-

Trost2022 G

IL1RL1

SP0085284

chr2:
102961186-102961186

A

C

UTR3

De novo

-

Fu2022 E

IL1RL1

MSSNG00342-004

chr2:
102943577-102943577

C

T

intronic

De novo

-

Trost2022 G

IL1RL1

1-0126-004

chr2:
102937452-102937452

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

IL1RL1

AU2310301

chr2:
102932075-102932075

A

G

intronic

De novo

-

Trost2022 G

IL1RL1

14482.p1

chr2:
102930591-102930591

C

T

intronic

De novo

-

Turner2016 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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