SNP Report

Basic Info

Name	rs4511 dbSNP Ensembl
Location	chr22:35320601 - 35320601(1)
Variant Alleles	G/C
Ancestral Allele	C
Minor Allele	G
Minor Allele Frequence	0.400559
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000465529); intron_variant(ENST00000382034, ENST00000395736, ENST00000404284, ENST00000411850, ENST00000424387, ENST00000425375, ENST00000439512, ENST00000443206, ENST00000447733, ENST00000449058, ENST00000449508, ENST00000456128, ENST00000487670, ENST00000608674, ENST00000608749); NMD_transcript_variant(ENST00000395736, ENST00000404284, ENST00000424387, ENST00000439512, ENST00000449508); non_coding_transcript_variant(ENST00000487670); upstream_gene_variant(ENST00000491987, ENST00000497448)
No. of Studies	1 (Positive: 1; Negative: 0; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Potash, J. B., 2008	C/G		Family-based P-value = 0.0066 for all BPAD subjects, family-...... Family-based P-value = 0.0066 for all BPAD subjects, family-based P-value = 0.003 for BPAD subjects with psychotic symptoms, family-based P-value = 0.0013 (3-marker sliding window with indicated marker first of the three), family-based P-value = 0.00049 (3-marker sliding window with indicated marker first of the three using only those BPAD subjects with psychotic symptoms).Case-control P-value = 0.72 for all BPAD subjects, case-control P-value = 0.99 for BPAD subjects with psychotic symptoms, case-control P-value = 0.13 (3-marker sliding window with indicated marker first of the three), case-control P-value = 0.091 (3-marker sliding window with indicated marker first of the three using only those BPAD subjects with psychotic symptoms). More...	The strongest signal in the family-based analysis emerged fr...... The strongest signal in the family-based analysis emerged from the 11 SNP HMG2L1/TOM1 haploblock. More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
TOM1	target of myb1 (chicken)	22q13.1	1(1/0/0)

SNPs in LD with rs4511 (count: 1) View in gBrowse (chr22:35316560..35320601 )

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

rs_ID	Literature-origin SNPs with LD	Functional Annotation	r²[population]
rs138780		intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]

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

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