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Results for "SEMA6D"
Variant Events: 26
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
SEMA6D
AU4473301
chr15:
47875555-47875555
T
A
intronic
De novo
-
-
Yuen2017
G
SEMA6D
1-0289-004
chr15:
47633849-47633849
A
T
intronic
De novo
-
-
Yuen2017
G
SEMA6D
2-1341-003
chr15:
47941543-47941543
G
C
intronic
De novo
-
-
Yuen2017
G
SEMA6D
AU2381302
chr15:
47882723-47882741
TAATAAATAAATAAATAAA
TAATAAATAAATAAA
intronic
De novo
-
-
Yuen2017
G
SEMA6D
2-0286-004
chr15:
47546359-47546359
A
G
intronic
De novo
-
-
Yuen2017
G
SEMA6D
NDAR_INVNE346GDX_wes1
chr15:
48056548-48056548
C
T
intronic
De novo
-
1.802E-5
Fu2022
E
Kosmicki2017
E
Satterstrom2020
E
SEMA6D
1-0569-003
chr15:
47498449-47498454
GTATAT
GTAT
intronic
De novo
-
-
Yuen2017
G
SEMA6D
AU3846303
chr15:
47753370-47753370
G
A
intronic
De novo
-
-
Yuen2017
G
SEMA6D
1-0699-003
chr15:
47988251-47988251
A
G
intronic
De novo
-
-
Yuen2017
G
SEMA6D
7-0222-003
chr15:
48089209-48089209
A
G
intergenic
De novo
-
-
Yuen2017
G
SEMA6D
AU1223301
chr15:
47684745-47684745
A
G
intronic
De novo
-
-
Yuen2017
G
SEMA6D
5-0138-003
chr15:
47695179-47695179
G
A
intronic
De novo
-
-
Yuen2017
G
SEMA6D
GM181996
chr15:
48058666-48058666
A
G
intronic
De novo
-
-
Fu2022
E
SEMA6D
A20
chr15:
47958436-47958436
G
A
intronic
De novo
-
-
Wu2018
G
SEMA6D
GM171511
chr15:
48053424-48053424
G
C
intronic
De novo
-
-
Fu2022
E
SEMA6D
1-0150-003
chr15:
47591799-47591799
A
G
intronic
De novo
-
-
Yuen2017
G
SEMA6D
13298.p1
chr15:
47655934-47655934
G
A
intronic
De novo
-
-
Turner2016
G
SEMA6D
AU1725306
chr15:
47881794-47881794
A
G
intronic
De novo
-
-
Yuen2017
G
SEMA6D
2-1341-004
chr15:
47683666-47683666
A
C
intronic
De novo
-
-
Yuen2017
G
SEMA6D
2-1164-003
chr15:
47726238-47726238
A
G
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
SEMA6D
AU2787301
chr15:
47636894-47636894
A
G
intronic
De novo
-
-
Yuen2017
G
SEMA6D
2-1105-003
chr15:
47859363-47859363
T
C
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
SEMA6D
1-0874-003
chr15:
47965700-47965700
G
C
intronic
De novo
-
-
Yuen2017
G
SEMA6D
2-0202-003
chr15:
47859711-47859711
C
T
intronic
De novo
-
-
Yuen2017
G
SEMA6D
AU3861303
chr15:
47553472-47553476
CTATT
CTATTATT
intronic
De novo
-
-
Yuen2017
G
SEMA6D
AU3680302
chr15:
47796333-47796333
C
T
intronic
De 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 notes
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