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Results for "SEMA3D"

Variant Events: 90

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
SEMA3D     A2chr7:
85860431-85860431
ATintergenicDe novo--Wu2018 G
SEMA3D     AU076704chr7:
86205241-86205241
GAintergenicDe novo--Yuen2017 G
SEMA3D     1-0092-004chr7:
86124361-86124361
AGintergenicDe novo--Yuen2017 G
SEMA3D     1-0439-003chr7:
85902243-85902243
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3D     AU4336301chr7:
85140722-85140722
GAintergenicDe novo--Yuen2017 G
SEMA3D     AU3885305chr7:
85212673-85212673
CGintergenicDe novo--Yuen2017 G
SEMA3D     2-1138-003chr7:
85903188-85903188
TCintergenicDe novo--Yuen2017 G
SEMA3D     1-0169-004chr7:
85747062-85747062
ACintergenicDe novo--Yuen2017 G
SEMA3D     AU066404chr7:
86085495-86085495
GAintergenicDe novo--Yuen2017 G
SEMA3D     AU0780301chr7:
84996258-84996258
TCintergenicDe novo--Yuen2017 G
SEMA3D     AU0780301chr7:
85058257-85058257
ACintergenicDe novo--Yuen2017 G
SEMA3D     2-1521-003chr7:
84865595-84865595
TAintergenicDe novo--Yuen2017 G
SEMA3D     7-0161-003chr7:
85510591-85510591
TCintergenicDe novo--Yuen2017 G
SEMA3D     1-0898-003chr7:
85206894-85206894
GAintergenicDe novo--Yuen2017 G
SEMA3D     3-0482-000chr7:
85342162-85342162
CAintergenicDe novo--Yuen2017 G
SEMA3D     AU4150301chr7:
85191933-85191933
CTintergenicDe novo--Yuen2017 G
SEMA3D     AU4235302chr7:
85865149-85865149
CTintergenicDe novo--Yuen2017 G
SEMA3D     AU3154301chr7:
85837958-85837958
CTintergenicDe novo--Yuen2017 G
SEMA3D     AU2248302chr7:
86163415-86163415
GCintergenicDe novo--Yuen2017 G
SEMA3D     AU3702306chr7:
85088330-85088330
AGintergenicDe novo--Yuen2017 G
SEMA3D     2-1258-004chr7:
85808527-85808528
AGAintergenicDe novo--Yuen2017 G
SEMA3D     2-1507-003chr7:
85950091-85950091
CAintergenicDe novo--Yuen2017 G
SEMA3D     AU4392302chr7:
86214580-86214580
CTintergenicDe novo--Yuen2017 G
SEMA3D     2-1429-004chr7:
85475188-85475188
CTintergenicDe novo--Yuen2017 G
SEMA3D     AU3913301chr7:
85669570-85669570
TCintergenicDe novo--Yuen2017 G
SEMA3D     AU2569303chr7:
85434741-85434741
GAintergenicDe novo--Yuen2017 G
SEMA3D     2-0198-005chr7:
84676943-84676944
ATAintronicDe novo--Yuen2017 G
SEMA3D     AU4246304chr7:
85287337-85287337
CTintergenicDe novo--Yuen2017 G
SEMA3D     5-0111-003chr7:
84726699-84726699
AGintronicDe novo--Yuen2017 G
SEMA3D     7-0222-003chr7:
84630439-84630444
TAACAATAACAAACAAintronicDe novo--Yuen2017 G
SEMA3D     AU3302302chr7:
85147565-85147565
ATintergenicDe novo--Yuen2017 G
SEMA3D     AU3692302chr7:
85418632-85418632
AGintergenicDe novo--Yuen2017 G
SEMA3D     1-0067-005chr7:
86190975-86190975
GAintergenicDe novo--Yuen2017 G
SEMA3D     AU4032307chr7:
84632223-84632223
AGintronicDe novo--Yuen2017 G
SEMA3D     11572.p1chr7:
85556025-85556025
TCintergenicDe novo--Turner2016 G
SEMA3D     2-1265-003chr7:
85316967-85316967
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3D     2-1370-003chr7:
84910704-84910704
ATintergenicDe novo--Yuen2017 G
SEMA3D     2-1721-003chr7:
84848040-84848040
CAintergenicDe novo--Yuen2017 G
SEMA3D     1-0214-003chr7:
85589297-85589297
TCintergenicDe novo--Yuen2017 G
SEMA3D     AU1952305chr7:
85283798-85283798
TAintergenicDe novo--Yuen2017 G
SEMA3D     1-0447-003chr7:
84676220-84676220
TAintronicDe novo--Yuen2017 G
SEMA3D     AU076808chr7:
85596462-85596462
AGintergenicDe novo--Yuen2017 G
SEMA3D     AU076808chr7:
85920910-85920913
CAATCintergenicDe novo--Yuen2017 G
SEMA3D     AU2140306chr7:
85123911-85123911
GTintergenicDe novo--Yuen2017 G
SEMA3D     2-1505-004chr7:
85852468-85852468
CTintergenicDe novo--Yuen2017 G
SEMA3D     AU3913303chr7:
84997548-84997548
TCintergenicDe novo--Yuen2017 G
SEMA3D     1-0067-004chr7:
84742916-84742916
AGintronicDe novo--Yuen2017 G
SEMA3D     2-0116-004chr7:
84654398-84654399
GTGintronicDe novo--Yuen2017 G
SEMA3D     2-1338-003chr7:
85071460-85071460
GCintergenicDe novo--Yuen2017 G
SEMA3D     AU011704chr7:
85220656-85220656
TCintergenicDe novo--Yuen2017 G
SEMA3D     1-0441-003chr7:
85139147-85139147
CTintergenicDe novo--Yuen2017 G
SEMA3D     1-0636-003chr7:
86263694-86263694
TCintergenicDe novo--Yuen2017 G
SEMA3D     AU4089301chr7:
85595707-85595707
ATintergenicDe novo--Yuen2017 G
SEMA3D     2-0198-004chr7:
84676943-84676944
ATAintronicDe novo--Yuen2017 G
SEMA3D     AU3761302chr7:
84705737-84705737
AGintronicDe novo--Yuen2017 G
SEMA3D     AU3918301chr7:
85872878-85872878
CTintergenicDe novo--Yuen2017 G
SEMA3D     74-0117chr7:
85220656-85220656
TCintergenicDe novo--Michaelson2012 G
SEMA3D     AU3839303chr7:
84767103-84767106
TCCCTCCintergenicDe novo--Yuen2017 G
SEMA3D     2-1644-004chr7:
84742940-84742940
AGintronicDe novo--Yuen2017 G
SEMA3D     AU024606chr7:
85697021-85697021
AGintergenicDe novo--Yuen2017 G
SEMA3D     60-2027chr7:
85480322-85480322
TAintergenicDe novo--Michaelson2012 G
SEMA3D     2-1508-004chr7:
84722694-84722694
GTintronicDe novo--Yuen2017 G
SEMA3D     AU079605chr7:
84711870-84711870
TCintronicDe novo--Yuen2017 G
SEMA3D     7-0188-003chr7:
85310099-85310099
CTintergenicDe novo--Yuen2017 G
SEMA3D     7-0188-003chr7:
85520382-85520382
ACintergenicDe novo--Yuen2017 G
SEMA3D     AU000704chr7:
85421050-85421050
GAintergenicDe novo--Yuen2017 G
SEMA3D     AU2427301chr7:
86081910-86081910
AGintergenicDe novo--Yuen2017 G
SEMA3D     1-0560-003chr7:
84842919-84842923
AGTGTAGTintergenicDe novo--Yuen2017 G
SEMA3D     2-1617-003chr7:
86000170-86000170
CTintergenicDe novo--Yuen2017 G
SEMA3D     AU000704chr7:
86054974-86054974
GTintergenicDe novo--Yuen2017 G
SEMA3D     2-1168-003chr7:
85470892-85470892
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3D     AU012803chr7:
85563855-85563855
CTintergenicDe novo--Yuen2017 G
SEMA3D     2-1168-003chr7:
85958245-85958245
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3D     5-0103-003chr7:
85511885-85511885
GAintergenicDe novo--Yuen2017 G
SEMA3D     2-1168-003chr7:
86075008-86075008
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3D     1-0338-003chr7:
84691540-84691540
GAintronicDe novo--Yuen2017 G
SEMA3D     AU3263302chr7:
86024144-86024144
TAintergenicDe novo--Yuen2017 G
SEMA3D     A8chr7:
86019473-86019473
GTintergenicDe novo--Wu2018 G
SEMA3D     1-0051-005chr7:
85773555-85773555
AGintergenicDe novo--Yuen2017 G
SEMA3D     AU4250301chr7:
85557838-85557838
ACintergenicDe novo--Yuen2017 G
SEMA3D     1-0051-005chr7:
84987224-84987226
CTTCintergenicDe novo--Yuen2017 G
SEMA3D     1-0985-003chr7:
86064476-86064476
GAintergenicDe novo--Yuen2017 G
SEMA3D     1-0051-004chr7:
85404492-85404492
TCintergenicDe novo--Yuen2017 G
SEMA3D     1-0197-003chr7:
85449429-85449429
AGintergenicDe novo--Yuen2017 G
SEMA3D     5-0109-003chr7:
85758774-85758774
GAintergenicDe novo--Yuen2017 G
SEMA3D     2-1411-003chr7:
84646459-84646459
GAintronicDe novo--Yuen2016 G
Yuen2017 G
SEMA3D     2-1422-003chr7:
85459976-85459976
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3D     5-0018-003chr7:
84743483-84743483
TCintronicDe novo--Yuen2017 G
SEMA3D     2-1305-003chr7:
85948236-85948236
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
SEMA3D     3-0065-000chr7:
86164581-86164581
GTintergenicDe 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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