Variant Results

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Results for "Ohashi2021"

Variant Events: 9

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
DDX3X	Ohashi2021:ASD-097	chrX: 41205762-41205762	C	A	exonic			nonsynonymous SNV	NM_001193417 NM_001193416 NM_001356	c.C1454A c.C1502A c.C1502A	p.A485E p.A501E p.A501E	26.9	-	Ohashi2021 ET
OPRL1	Ohashi2021:ASD-111	chr20: 62729793-62729793	C	T	exonic			stopgain	NM_000913 NM_182647 NM_001200019	c.C754T c.C754T c.C754T	p.R252X p.R252X p.R252X	35.0	9.154E-5	Ohashi2021 ET
FOXP1	Ohashi2021:ASD-160	chr3: 71026789-71026789	C	T	intronic							-	-	Ohashi2021 ET
EHMT1	Ohashi2021:ASD-062	chr9: 140672501-140672501	C	T	exonic			nonsynonymous SNV	NM_001145527 NM_024757	c.C2186T c.C2186T	p.S729L p.S729L	21.8	5.815E-5	Ohashi2021 ET
RELN	Ohashi2021:ASD-175	chr7: 103185784-103185784	G	A	exonic			nonsynonymous SNV	NM_005045 NM_173054	c.C6310T c.C6310T	p.R2104C p.R2104C	19.94	8.395E-6	Ohashi2021 ET
RELN	Ohashi2021:ASD-149	chr7: 103202149-103202149	G	A	exonic			nonsynonymous SNV	NM_005045 NM_173054	c.C5359T c.C5359T	p.R1787W p.R1787W	23.0	6.612E-5	Ohashi2021 ET
SCTR	Ohashi2021:ASD-061	chr2: 120209612-120209612	G	A	exonic			nonsynonymous SNV	NM_002980	c.C895T	p.R299C	21.6	0.0023	Ohashi2021 ET
RELN	Ohashi2021:ASD-079	chr7: 103185784-103185784	G	A	exonic			nonsynonymous SNV	NM_005045 NM_173054	c.C6310T c.C6310T	p.R2104C p.R2104C	19.94	8.395E-6	Ohashi2021 ET
BDKRB1	Ohashi2021:ASD-001	chr14: 96730422-96730422	C	T	exonic			nonsynonymous SNV	NM_000710	c.C403T	p.R135C	21.8	8.621E-5	Ohashi2021 ET

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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