Variant Results

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Results for "S100A1"

Variant Events: 8

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
S100A1	1-0715-003	chr1: 153604076-153604076	G	A	intronic		De novo					-	-	Trost2022 G Trost2022 G Yuen2017 G
S100A1	09C83459	chr1: 153604222-153604222	G	A	exonic		De novo	nonsynonymous SNV	NM_006271	c.G190A	p.E64K	16.05	1.647E-5	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
S100A1	13922.p1	chr1: 153604353-153604353	A	C	UTR3		De novo					-	4.0E-4	Satterstrom2020 E
S100A1	AU060004	chr1: 153602478-153602478	C	T	intronic		De novo					-	-	Yuen2017 G
S100A1	SSC09749	chr1: 153604353-153604353	A	C	UTR3		De novo					-	4.0E-4	Trost2022 G
S100A1	mAGRE1245	chr1: 153600973-153600973	G	A	splicing		Maternal	splicing				7.91	3.0E-4	Cirnigliaro2023 G
S100A1	mAGRE1212	chr1: 153600973-153600973	G	A	splicing		Maternal	splicing				7.91	3.0E-4	Cirnigliaro2023 G
S100A1	mAGRE1207	chr1: 153600973-153600973	G	A	splicing		Maternal	splicing				7.91	3.0E-4	Cirnigliaro2023 G

Source Variant Information

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Paper Information

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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.
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