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Results for "OSR1"

Variant Events: 32

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
OSR1     2-1408-003chr2:
19984091-19984091
AATACintergenicDe novo--Yuen2017 G
OSR1     2-1342-003chr2:
19557495-19557495
AGintronicDe novo--Yuen2016 G
Yuen2017 G
OSR1     13532.p1chr2:
19605814-19605814
AGintergenicDe novo--Werling2018 G
OSR1     2-1719-003chr2:
19824528-19824534
ACACCACACACintergenicDe novo--Yuen2017 G
OSR1     2-1456-004chr2:
19984086-19984086
TTACintergenicDe novo--Yuen2017 G
OSR1     2-1715-004chr2:
19984086-19984086
TTACintergenicDe novo--Yuen2017 G
OSR1     2-1366-003chr2:
19895500-19895500
CAintergenicDe novo--Yuen2017 G
OSR1     2-1579-003chr2:
19735740-19735740
GAintergenicDe novo--Yuen2017 G
OSR1     2-0256-004chr2:
19605162-19605162
GAintergenicDe novo--Yuen2017 G
OSR1     2-1174-005Bchr2:
19984131-19984131
TCintergenicDe novo--Yuen2017 G
OSR1     1-0079-008chr2:
19983692-19983692
CTintergenicDe novo--Yuen2017 G
OSR1     AU057503chr2:
19583858-19583858
TCintergenicDe novo--Yuen2017 G
OSR1     AU002406chr2:
19597821-19597821
GAintergenicDe novo--Yuen2017 G
OSR1     2-1093-009chr2:
20017703-20017703
TCintergenicDe novo--Yuen2017 G
OSR1     2-0214-003chr2:
19946198-19946198
GCintergenicDe novo--Yuen2017 G
OSR1     2-1239-003chr2:
19598844-19598844
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
OSR1     AU1223301chr2:
19929110-19929110
GTintergenicDe novo--Yuen2017 G
OSR1     AU3859301chr2:
19687793-19687793
GAintergenicDe novo--Yuen2017 G
OSR1     AU051503chr2:
20056255-20056255
GTintergenicDe novo--Yuen2017 G
OSR1     2-1702-003chr2:
19983970-19983970
TAintergenicDe novo--Yuen2017 G
OSR1     2-1127-003chr2:
19862919-19862919
ACintergenicDe novo--Yuen2017 G
OSR1     1-0914-003chr2:
19813063-19813063
CTintergenicDe novo--Yuen2017 G
OSR1     1-0572-003chr2:
19661580-19661580
TCintergenicDe novo--Yuen2017 G
OSR1     1-0912-003chr2:
19984085-19984085
CCCAAGintergenicDe novo--Yuen2017 G
OSR1     1-0377-003chr2:
19984090-19984090
CCAAintergenicDe novo--Yuen2017 G
OSR1     AU3712302chr2:
19941301-19941301
CTintergenicDe novo--Yuen2017 G
OSR1     1-0051-005chr2:
19984091-19984091
AATACintergenicDe novo--Yuen2017 G
OSR1     1-0197-004chr2:
19813240-19813240
CAintergenicDe novo--Yuen2017 G
OSR1     1-0446-003chr2:
19855635-19855635
CAintergenicDe novo--Yuen2017 G
OSR1     2-1690-003chr2:
20063248-20063248
GAintergenicDe novo--Yuen2017 G
OSR1     AU3907302chr2:
19584107-19584107
AGintergenicDe novo--Yuen2017 G
OSR1     AU3907302chr2:
19679744-19679744
AGintergenicDe 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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