SNP Report

Basic Info

Name	rs2272843 dbSNP Ensembl
Location	chr22:50161037 - 50161037(1)
Variant Alleles	C/A
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.124601
Functional Annotation	downstream_gene_variant; intron_variant; missense_variant. Polyphen Annotation: benign(ENST00000262794, ENST00000395852, ENST00000395858, ENST00000545383) SIFT Annotation: tolerated(ENST00000262794, ENST00000395852, ENST00000395858, ENST00000545383)
Consequence to Transcript	downstream_gene_variant(ENST00000354853); intron_variant(ENST00000540615); missense_variant(ENST00000262794, ENST00000395852, ENST00000395858, ENST00000545383)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Severinsen, J. E., 2006 (b)	C/A		P-value = 0.5064 in BD, P-value = 0.3018 in BD and SZ P-value = 0.5064 in BD, P-value = 0.3018 in BD and SZ		Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
MOV10L1	Mov10 RISC complex RNA helicase like 1	22q13.33	1(0/1/0)

SNPs in LD with rs2272843 (count: 15) View in gBrowse (chr22:50071488..50168982 )

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]
rs4838816	intron_variant; upstream_gene_variant	0.869[CEU]
rs730342	downstream_gene_variant	0.811[CEU]
rs4838853	intron_variant	1.0[CEU]
rs9617018	3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant	0.936[CEU]
rs4838848	intron_variant; NMD_transcript_variant	1.0[CEU]
rs4838847	intron_variant; NMD_transcript_variant	0.926[CEU]
rs13057433	intron_variant	1.0[CEU]; 1.0[TSI]
rs13054483	intron_variant	1.0[CEU]
rs13056619	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]
rs882753	NMD_transcript_variant; synonymous_variant	0.936[CEU]
rs2294391	intron_variant; non_coding_transcript_variant	0.804[CEU]
rs17248210	downstream_gene_variant	1.0[CEU]
rs730340	downstream_gene_variant	0.828[CEU]
rs11101951	upstream_gene_variant	1.0[CEU]; 1.0[TSI]
rs9617082	intron_variant; NMD_transcript_variant	0.936[CEU]

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

Reference	Statistical Result	Description	Result Category
Severinsen, J. E., 2006 (b)	P-value = 0.2701 in SZ, P-value = 0.3018 in BD and SZ		Negative

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