SNP Report

Basic Info

Name	rs2492367 dbSNP Ensembl
Location	chr1:231770843 - 231770843(1)
Variant Alleles	C/G/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.142173
Functional Annotation	3_prime_UTR_variant; intron_variant; missense_variant; NMD_transcript_variant; synonymous_variant. Polyphen Annotation: benign(ENST00000622252' target='_blank'>ENST00000622252, ENST00000366636, ENST00000602281, ENST00000602873); possibly damaging(ENST00000622252' target='_blank'>ENST00000622252, ENST00000295051, ENST00000366633, ENST00000366637, ENST00000439617, ENST00000535944, ENST00000535983, ENST00000537876, ENST00000539444, ENST00000628350) SIFT Annotation: deleterious(ENST00000622252); tolerated(ENST00000366636, ENST00000602281, ENST00000602873, ENST00000295051, ENST00000366633, ENST00000366637, ENST00000439617, ENST00000535944, ENST00000535983, ENST00000537876, ENST00000539444, ENST00000628350)
Consequence to Transcript	3_prime_UTR_variant(ENST00000366632, ENST00000422590, ENST00000602567, ENST00000602634, ENST00000602700, ENST00000602713, ENST00000602822, ENST00000602885, ENST00000602956, ENST00000602962); intron_variant(ENST00000620189); missense_variant(ENST00000622252, ENST00000366636, ENST00000602281, ENST00000602873, ENST00000622252, ENST00000295051, ENST00000366633, ENST00000366637, ENST00000439617, ENST00000535944, ENST00000535983, ENST00000537876, ENST00000539444, ENST00000628350); NMD_transcript_variant(ENST00000295051, ENST00000366632, ENST00000422590, ENST00000535944, ENST00000602567, ENST00000602634, ENST00000602700, ENST00000602713, ENST00000602822, ENST00000602885, ENST00000602956, ENST00000602962, ENST00000295051, ENST00000535944); synonymous_variant(ENST00000295051, ENST00000366633, ENST00000366636, ENST00000366637, ENST00000439617, ENST00000535944, ENST00000535983, ENST00000537876, ENST00000539444, ENST00000602281, ENST00000602873, ENST00000628350)
No. of Studies	3 (Positive: 1; Negative: 2; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 3)

Reference	Allele Change	Statistical Values	Author Comments	Result Category
Schosser, A., 2010	C/T	genotypic/allelic test P-value < 0.001/0.022; FDR genotypic...... genotypic/allelic test P-value < 0.001/0.022; FDR genotypic P-value = 0.008. More...	Single-marker association analyses showed significant genoty...... Single-marker association analyses showed significant genotypic and allelic associations with BD. More...	Positive
Thomson, P. A.,2005(a)		Single-Marker Analysis: allele frequency, for BP, P-value = ...... Single-Marker Analysis: allele frequency, for BP, P-value = 0.2 More...	No significant association was observed. No significant association was observed.	Negative
Yosifova, A.,2009	C/T	Allelic association: P-value = 0.23 Allelic association: P-value = 0.23	No significant association was observed No significant association was observed	Negative

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
TSNAX	translin-associated factor X	1q42.2	4(3/1/0)
DISC1	disrupted in schizophrenia 1	1q42.1	18(10/7/1)

SNPs in LD with rs2492367 (count: 0) View in gBrowse (chr1:231770843..231770843 )

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Thomson, P. A.,2005(a)	Single-Marker Analysis:allele frequency, for SZ, P-value = 0.5	No significant association was observed.	Negative

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Schosser, A., 2010	genotypic/allelic test P-value: 0.31/0.97	No significant genotypic or allelic association was observed.	Negative