SNP Report

Basic Info

Name	rs450046 dbSNP Ensembl
Location	chr22:18913491 - 18913491(1)
Variant Alleles	C/T
Minor Allele	C
Minor Allele Frequence	0.0944489
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant. Polyphen Annotation: benign(ENST00000334029, ENST00000357068, ENST00000420436, ENST00000610940) SIFT Annotation: tolerated(ENST00000334029, ENST00000357068, ENST00000420436, ENST00000610940)
Consequence to Transcript	3_prime_UTR_variant(ENST00000483718); downstream_gene_variant(ENST00000331444, ENST00000413981, ENST00000427407, ENST00000436645, ENST00000477156, ENST00000480608, ENST00000609229); missense_variant(ENST00000334029, ENST00000357068, ENST00000420436, ENST00000610940); NMD_transcript_variant(ENST00000483718); non_coding_transcript_exon_variant(ENST00000313755, ENST00000429300, ENST00000482858, ENST00000491604); non_coding_transcript_variant(ENST00000313755, ENST00000429300, ENST00000482858, ENST00000491604)
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
Prata, D. P., 2006			no P-value no P-value	A chi-square analysis showed no genotype-wise or allele-wise...... A chi-square analysis showed no genotype-wise or allele-wise association for any individual SNP. More...	Positive

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
DGCR6	DiGeorge syndrome critical region gene 6	22q11.21	1(0/1/0)
PRODH	proline dehydrogenase (oxidase) 1	22q11.2	4(0/4/0)

SNPs in LD with rs450046 (count: 8) View in gBrowse (chr22:18913491..18917604 )

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]
rs28750191	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CEU]
rs375735	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.879[CEU]
rs455135	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CEU]
rs375115	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CEU]
rs395440	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CEU]
rs376425	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CEU]
rs452378	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]
rs2540623	downstream_gene_variant; intron_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)