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Results for "SND1"

Variant Events: 35

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
SND1     2-1093-009chr7:
127653749-127653749
GAintronicDe novo--Yuen2017 G
SND1     SSC00010chr7:
127631105-127631105
GAexonicDe novononsynonymous SNVNM_014390c.G1775Ap.R592Q35.02.806E-5Lim2017 E
SND1     AU4467302chr7:
127587034-127587039
CATATACATAintronicDe novo--Yuen2017 G
SND1     2-0225-004chr7:
127598798-127598798
CTintronicDe novo--Yuen2017 G
SND1     2-0197-004chr7:
127752354-127752354
TCintergenicDe novo--Yuen2017 G
SND1     3-0437-000chr7:
127463264-127463264
TCintronicDe novo--Yuen2016 G
SND1     1-0708-003chr7:
127615865-127615865
CGintronicDe novo--Yuen2017 G
SND1     2-1436-003chr7:
127636935-127636935
CTintronicDe novo--Yuen2017 G
SND1     2-1567-003chr7:
127695508-127695508
GTintronicDe novo--Yuen2017 G
SND1     AU056803chr7:
127753396-127753396
AGintergenicDe novo--Yuen2017 G
SND1     AU072905chr7:
127688760-127688760
GAintronicDe novo--Yuen2017 G
SND1     1-0597-003chr7:
127346755-127346755
AGintronicDe novo--Yuen2017 G
SND1     1-0403-003chr7:
127673563-127673563
AGintronicDe novo--Yuen2017 G
SND1     3-0428-000chr7:
127587692-127587692
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SND1     AU017704chr7:
127442495-127442495
AGintronicDe novo--Yuen2017 G
SND1     1-0352-005chr7:
127629523-127629523
CTintronicDe novo--Yuen2017 G
SND1     1-0898-003chr7:
127653771-127653771
ATintronicDe novo--Yuen2017 G
SND1     3-0111-000chr7:
127295215-127295215
GAintronicDe novo--Yuen2016 G
SND1     11078.p1chr7:
127631105-127631105
GAexonicDe novononsynonymous SNVNM_014390c.G1775Ap.R592Q35.02.806E-5Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
SND1     2-1327-004chr7:
127575024-127575024
AGintronicDe novo--Yuen2017 G
SND1     2-1626-003chr7:
127577799-127577799
TCintronicDe novo--Yuen2017 G
SND1     AU3760302chr7:
127346503-127346503
TGintronicDe novo--Yuen2017 G
SND1     13649.p1chr7:
127757868-127757868
GAintergenicDe novo--Turner2016 G
SND1     2-1361-003chr7:
127631885-127631885
GAintronicDe novo--Yuen2017 G
SND1     14496.p1chr7:
127607725-127607725
ACintronicDe novo--Turner2016 G
SND1     1-0175-004chr7:
127645492-127645492
GAintronicDe novo--Yuen2017 G
SND1     AU3765302chr7:
127415158-127415161
GATAGATATAintronicDe novo--Yuen2017 G
SND1     2-1374-003chr7:
127418408-127418408
CTintronicDe novo--Yuen2017 G
SND1     7-0080-003chr7:
127328937-127328937
TCintronicDe novo--Yuen2017 G
SND1     1-0972-003chr7:
127826272-127826272
TGintergenicDe novo--Yuen2017 G
SND1     1-0352-003chr7:
127629523-127629523
CTintronicDe novo--Yuen2016 G
SND1     7-0254-003chr7:
127501656-127501656
TCintronicDe novo--Yuen2017 G
SND1     2-1120-003chr7:
127841373-127841373
AGintergenicDe novo--Yuen2017 G
SND1     2-1352-003chr7:
127445795-127445795
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SND1     AU4233301chr7:
127541446-127541446
CTintronicDe 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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