SNP Report

Basic Info

Name	rs4411993 dbSNP Ensembl
Location	chr4:7464739 - 7464739(1)
Variant Alleles	T/C
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.149561
Functional Annotation	downstream_gene_variant; intron_variant; non_coding_transcript_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000579577); intron_variant(ENST00000329016, ENST00000507866, ENST00000511199); non_coding_transcript_variant(ENST00000511199)
No. of Studies	5 (Positive: 1; Negative: 4; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 5)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Ollila, H. M.,2009	C/T		FBAT: P-value = 0.006045 FBAT: P-value = 0.006045	Significant association was observed Significant association was observed	Positive
Baum, A. E., 2008 (a)		C	P-value = 0.003 when genotyped individually in the test samp...... P-value = 0.003 when genotyped individually in the test sample (NIMH); P-value = 0.03 when individually genotyped in the Replication sample (German); P-value = 0.0005 in the combined dataset. OR (95% CI)=1.35 (1.14-1.61) More...	significant at the P < 0.05 level in both samples. significant at the P < 0.05 level in both samples.	Negative
Takata, A.,2011(a)	T/C		Fisher's exact test: allele P-value = 0.5703, genotype P-val...... Fisher's exact test: allele P-value = 0.5703, genotype P-value = 0.6969 More...	No significant association was observed in BD. No significant association was observed in BD.	Negative
Yosifova, A.,2009	C/T		Allelic association: P-value = 1 Allelic association: P-value = 1	No significant association was observed No significant association was observed	Negative
Baum, A. E., 2008 (b)		C	Random effects P-value = 0.054; DerSimonian-Laird (random e...... Random effects P-value = 0.054; DerSimonian-Laird (random effects) OR (95% CI)=1.23 (1.00-1.52) More...		Negative

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
MIR4274	microRNA 4274	4	Mapped by Literature SNP
SORCS2	sortilin-related VPS10 domain containing receptor 2	4p16.1	5(3/2/0)

SNPs in LD with rs4411993 (count: 7) View in gBrowse (chr4:7464739..7472625 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Functional Annotation	r²[population]
rs4234813	intron_variant; non_coding_transcript_variant	1.0[CHB]; 0.941[JPT]
rs4266295	intron_variant; non_coding_transcript_variant	0.844[CHB]
rs4689126	intron_variant; non_coding_transcript_variant	0.802[CHB]; 0.852[CHD]
rs4616749	intron_variant; non_coding_transcript_variant	0.821[CHB]; 0.831[JPT]
rs16840313	intron_variant; non_coding_transcript_variant	0.893[CHB]; 0.895[JPT]
rs16840336	intron_variant; non_coding_transcript_variant	0.875[CHB]
rs4234814	intron_variant; non_coding_transcript_variant	1.0[CHB]; 0.895[JPT]

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with MDD from cross-disorder studies (count: 0)