SNP Report

Basic Info

Name	rs2213172 dbSNP Ensembl
Location	chr22:23237323 - 23237323(1)
Variant Alleles	C/G
Ancestral Allele	C
Minor Allele	C
Minor Allele Frequence	0.441294
Functional Annotation	intron_variant; non_coding_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000305877, ENST00000359540, ENST00000398512, ENST00000463770, ENST00000479188, ENST00000487679); non_coding_transcript_variant(ENST00000463770, ENST00000479188, ENST00000487679)
No. of Studies	2 (Positive: 1; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	YES

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Hashimoto, R.,2005(a)	G/C		Allelic association: for BPII, P-value = 0.0009, OR=1.87; fo...... Allelic association: for BPII, P-value = 0.0009, OR=1.87; for MDD, P-value = 0.031, OR=1.28; for total cases, P-value = 0.04, OR=1.24; genotypic association: for BPII, P-value = 0.011; OR(95%CI)=2.03(1.19-3.61) More...	Significant associations were found in BD. Significant associations were found in BD.	Positive
Yosifova, A.,2009	C/G		Allelic association: P-value = 0.77 Allelic association: P-value = 0.77	No significant association was observed No significant association was observed	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
BCR	breakpoint cluster region	22q11	2(1/1/0)

SNPs in LD with rs2213172 (count: 12) View in gBrowse (chr22:23218194..23238800 )

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]
rs1005184	intron_variant; non_coding_transcript_variant	0.945[CHB]; 1.0[JPT]
rs1010609	intron_variant; non_coding_transcript_variant	0.943[CHB]; 0.943[JPT]
rs2256725	intron_variant; non_coding_transcript_variant	0.886[JPT]
rs4820548	intron_variant; non_coding_transcript_variant	0.945[CHB]; 1.0[JPT]
rs4822375	intron_variant; non_coding_transcript_variant	0.943[CHB]; 1.0[JPT]
rs2267016	intron_variant; non_coding_transcript_variant	0.886[JPT]
rs762601	intron_variant; non_coding_transcript_variant	0.943[CHB]; 1.0[JPT]
rs877590	intron_variant; non_coding_transcript_variant	0.945[CHB]; 1.0[JPT]
rs1557496	intron_variant; non_coding_transcript_variant	0.945[CHB]; 1.0[JPT]
rs6003579	intron_variant; non_coding_transcript_variant	0.943[CHB]; 1.0[JPT]
rs5751611	intron_variant; non_coding_transcript_variant	0.943[CHB]; 1.0[JPT]
rs1557497	intron_variant; non_coding_transcript_variant	0.89[CHB]; 1.0[JPT]

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

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

Reference	Statistical Result	Description	Result Category
Hashimoto, R.,2005(a)	Allelic association:for MDD, P-value = 0.031, OR=1.28	Significant associations were found in MDD.	Positive