Variant Results

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Results for "OR5AC2"

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
OR5AC2	SSC02163	chr3: 97806680-97806680	C	T	exonic		De novo	nonsynonymous SNV	NM_054106	c.C664T	p.R222C	10.83	4.18E-5	Fu2022 E
OR5AC2	SP0092688	chr3: 97806386-97806386	C	T	exonic		De novo	nonsynonymous SNV	NM_054106	c.C370T	p.R124C	15.03	6.62E-5	Fu2022 E
OR5AC2	11555.p1	chr3: 97806680-97806680	C	T	exonic		De novo	nonsynonymous SNV	NM_054106	c.C664T	p.R222C	10.83	4.18E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Sanders2012 E Satterstrom2020 E
OR5AC2	08C77633	chr3: 97806355-97806355	A	G	exonic		De novo	synonymous SNV	NM_054106	c.A339G	p.E113E	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
OR5AC2	1-0387-003	chr3: 97847878-97847878	G	T	intergenic		De novo					-	-	Yuen2016 G
OR5AC2	5-0074-003	chr3: 97835024-97835024	C	T	intergenic		De novo					-	-	Yuen2017 G
OR5AC2	A1	chr3: 97808519-97808519	C	A	intergenic		De novo					-	-	Wu2018 G
OR5AC2	AU3779302	chr3: 97833258-97833265	TTAGATAG	TTAG	intergenic		De novo					-	-	Yuen2017 G
OR5AC2	SP0098450	chr3: 97806756-97806756	T	A	exonic		De novo	nonsynonymous SNV	NM_054106	c.T740A	p.L247Q	18.2	-	Fu2022 E

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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