SNP Report

Basic Info

Name	rs1148247 dbSNP Ensembl
Location	chr10:35208018 - 35208018(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.289337
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000466251, ENST00000494479); intron_variant(ENST00000337656, ENST00000342105, ENST00000344351, ENST00000345491, ENST00000348787, ENST00000354759, ENST00000356917, ENST00000361599, ENST00000374721, ENST00000374728, ENST00000374734, ENST00000395887, ENST00000429130, ENST00000439705, ENST00000460270, ENST00000461968, ENST00000463314, ENST00000463960, ENST00000464475, ENST00000468236, ENST00000469517, ENST00000473940, ENST00000474362, ENST00000474931, ENST00000479070, ENST00000484283, ENST00000487132, ENST00000487763, ENST00000488328, ENST00000488741, ENST00000490460, ENST00000490511, ENST00000495960); NMD_transcript_variant(ENST00000464475, ENST00000490460, ENST00000495960); non_coding_transcript_variant(ENST00000461968, ENST00000469517); upstream_gene_variant(ENST00000602435)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	YES

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Crisafulli, C.,2012	A/G		Association analysis: genotype P-value = 0.52, chi square=3....... Association analysis: genotype P-value = 0.52, chi square=3.23; allele P-value = 0.68, chi square=0.77 More...	No significant association was observed in BD. No significant association was observed in BD.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CREM	cAMP responsive element modulator	10p12.1-p11.1	1(0/1/0)

SNPs in LD with rs1148247 (count: 1) View in gBrowse (chr10:35034202..35208018 )

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]
rs12184386		intron_variant; NMD_transcript_variant	0.802[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
Crisafulli, C.,2012	Association analysis:genotype P-value = >0.05;allele P-value > 0.05	No significant association was observed in MDD.	Negative