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Results for "ANXA1"

Variant Events: 28

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
ANXA1     10C117951chr9:
75777757-75777757
GAexonicDe novononsynonymous SNVNM_000700c.G535Ap.A179T23.47.64E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
ANXA1     1-0330-003chr9:
76091961-76091961
TCintergenicDe novo--Yuen2017 G
ANXA1     2-1378-003chr9:
76363727-76363727
CAintergenicDe novo--Yuen2017 G
ANXA1     2-1619-004chr9:
76090258-76090258
CTintergenicDe novo--Yuen2017 G
ANXA1     A16chr9:
76294103-76294103
ACintergenicDe novo--Wu2018 G
ANXA1     1-0871-003chr9:
76189481-76189481
AGintergenicDe novo--Yuen2017 G
ANXA1     AU3712302chr9:
76120871-76120871
TGintergenicDe novo--Yuen2017 G
ANXA1     AU4145301chr9:
75778812-75778812
CTintronicDe novo--Yuen2017 G
ANXA1     1-0294-003chr9:
75870596-75870596
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ANXA1     2-1277-004chr9:
76249433-76249433
TCintergenicDe novo--Yuen2017 G
ANXA1     AU4089302chr9:
76353421-76353421
TCintergenicDe novo--Yuen2017 G
ANXA1     A23chr9:
75832518-75832518
GAintergenicDe novo--Wu2018 G
ANXA1     1-0382-004chr9:
75866322-75866322
AGintergenicDe novo--Yuen2017 G
ANXA1     1-0569-003chr9:
76219230-76219230
CTintergenicDe novo--Yuen2017 G
ANXA1     2-0081-003chr9:
76137932-76137932
CTintergenicDe novo--Yuen2017 G
ANXA1     AU3861302chr9:
76174561-76174561
TCintergenicDe novo--Yuen2017 G
ANXA1     AU025704chr9:
76070943-76070943
GTintergenicDe novo--Yuen2017 G
ANXA1     AU2433303chr9:
76346184-76346184
CGintergenicDe novo--Yuen2017 G
ANXA1     AU3371305chr9:
76133340-76133340
AGintergenicDe novo--Yuen2017 G
ANXA1     AU1894304chr9:
75835313-75835313
GAintergenicDe novo--Yuen2017 G
ANXA1     AU3765302chr9:
76015570-76015570
CTintergenicDe novo--Yuen2017 G
ANXA1     5-0147-003chr9:
76343328-76343328
CTintergenicDe novo--Yuen2017 G
ANXA1     1-0995-003chr9:
75910079-75910079
TAintergenicDe novo--Yuen2017 G
ANXA1     AU4359301chr9:
76198315-76198315
TCintergenicDe novo--Yuen2017 G
ANXA1     1-0024-003chr9:
76008991-76008991
CTintergenicDe novo--Yuen2017 G
ANXA1     2-1378-003chr9:
75946754-75946754
AGintergenicDe novo--Yuen2017 G
ANXA1     5-0014-003chr9:
76146415-76146415
GAintergenicDe novo--Yuen2017 G
ANXA1     AU002406chr9:
75860189-75860189
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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