SNP Report

Basic Info

Name	rs839511 dbSNP Ensembl
Location	chr2:211957517 - 211957517(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.171526
Functional Annotation	intron_variant; non_coding_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000260943, ENST00000342788, ENST00000402597, ENST00000435846, ENST00000436443, ENST00000484474, ENST00000484594); non_coding_transcript_variant(ENST00000484474, ENST00000484594)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Chen, P.,2012	C/T	T	Chi square test: allele P-value = 0.69, OR=0.961; genotype P...... Chi square test: allele P-value = 0.69, OR=0.961; genotype P-value = 0.487, chi square=1.44 for BPAD More...	No significant association was observed in BPAD. No significant association was observed in BPAD.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
ERBB4	erb-b2 receptor tyrosine kinase 4	2q33.3-q34	2(1/1/0)

SNPs in LD with rs839511 (count: 14) View in gBrowse (chr2:211926524..211977609 )

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]
rs839530	intron_variant; non_coding_transcript_variant	1.0[CHB]; 0.927[CHD]; 1.0[JPT]
rs16847207	intron_variant; non_coding_transcript_variant	0.863[JPT]
rs839525	intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs839509	intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[JPT]
rs2579980	intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[JPT]
rs13025703	intron_variant; non_coding_transcript_variant	1.0[JPT]
rs10497957	intron_variant; non_coding_transcript_variant	1.0[JPT]
rs16847218	intron_variant; non_coding_transcript_variant	0.846[CHB]; 1.0[CHD]; 0.863[JPT]
rs11695985	intron_variant; non_coding_transcript_variant	1.0[JPT]
rs2083297	intron_variant; non_coding_transcript_variant	1.0[JPT]
rs17414925	intron_variant; non_coding_transcript_variant	1.0[JPT]
rs707283	intron_variant; non_coding_transcript_variant	1.0[JPT]
rs957698	intron_variant; non_coding_transcript_variant	1.0[JPT]
rs16847357	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[JPT]

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

Reference	Statistical Result	Description	Result Category
Chen, P.,2012	Chi square test: allele P-value = 0.937, OR=0.992;genotype P-value = 0.932, chi square=0.14 for SCZ	No significant association was observed.	Negative

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

Reference	Statistical Result	Description	Result Category
Chen, P.,2012	Chi square test: allele P-value = 0.526, OR=0.938;genotype P-value = 0.805, chi square=0.434 for MDD	No significant association was observed.	Negative