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Results for "LOC101927881"

Variant Events: 18

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
LOC101927881   2-1329-003chr2:
129884294-129884294
AGintergenicDe novo--Yuen2016 G
LOC101927881   2-1398-004chr2:
129628471-129628471
GAintergenicDe novo--Yuen2017 G
LOC101927881   AU4103301chr2:
129974291-129974291
GAintergenicDe novo--Yuen2017 G
LOC101927881   7-0250-003chr2:
129712451-129712451
GAintergenicDe novo--Yuen2017 G
LOC101927881   AU4007301chr2:
129919018-129919018
GAintergenicDe novo--Yuen2017 G
LOC101927881   AU011604chr2:
129835128-129835128
GAintergenicDe novo--Yuen2017 G
LOC101927881   2-1421-003chr2:
129782675-129782675
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC101927881   2-1505-004chr2:
129936300-129936300
CGintergenicDe novo--Yuen2017 G
LOC101927881   7-0123-003chr2:
129846574-129846574
TCintergenicDe novo--Yuen2017 G
LOC101927881   2-1730-003chr2:
129795256-129795256
TCintergenicDe novo--Yuen2017 G
LOC101927881   AU3765302chr2:
129707909-129707909
CAintergenicDe novo--Yuen2017 G
LOC101927881   2-1442-003chr2:
129957625-129957625
GAintergenicDe novo--Yuen2017 G
LOC101927881   2-1480-003chr2:
129854614-129854620
TATTATATintergenicDe novo--Yuen2016 G
LOC101927881   AU009903chr2:
129723203-129723203
AGintergenicDe novo--Yuen2017 G
LOC101927881   2-1427-003chr2:
129666861-129666861
TCintergenicDe novo--Yuen2017 G
LOC101927881   2-0090-003chr2:
129621589-129621589
TGupstreamDe novo--Yuen2017 G
LOC101927881   A17chr2:
129955538-129955538
TCintergenicDe novo--Wu2018 G
LOC101927881   1-0482-003chr2:
129924882-129924882
ATintergenicDe novo--Yuen2016 G
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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