SNP Report

Basic Info

Name	rs3817190 dbSNP Ensembl
Location	chr12:121274274 - 121274274(1)
Variant Alleles	T/A
Ancestral Allele	T
Minor Allele	A
Minor Allele Frequence	0.411741
Functional Annotation	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant. Polyphen Annotation: benign(ENST00000543477, ENST00000324774, ENST00000337174, ENST00000347034, ENST00000392473, ENST00000392474, ENST00000402834, ENST00000404169, ENST00000412367, ENST00000446440, ENST00000538733, ENST00000544485) SIFT Annotation: tolerated - low confidence(ENST00000324774, ENST00000337174, ENST00000347034, ENST00000392473, ENST00000392474, ENST00000402834, ENST00000404169, ENST00000412367, ENST00000446440, ENST00000538733, ENST00000544485); tolerated(ENST00000543477)
Consequence to Transcript	missense_variant(ENST00000543477, ENST00000324774, ENST00000337174, ENST00000347034, ENST00000392473, ENST00000392474, ENST00000402834, ENST00000404169, ENST00000412367, ENST00000446440, ENST00000538733, ENST00000544485); non_coding_transcript_exon_variant(ENST00000535524, ENST00000539380, ENST00000542540); non_coding_transcript_variant(ENST00000535524, ENST00000539380, ENST00000542540)
No. of Studies	2 (Positive: 1; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
McQuillin, A.,2009			Allelic Association: X²=0.018, P-value = 0.893 Allelic Association: X²=0.018, P-value = 0.893	No significant association was observed No significant association was observed	Negative
Barden, N., 2006	A/T		FBAT P-value = 0.01548, Z=2.421 for allelic analysis under a...... FBAT P-value = 0.01548, Z=2.421 for allelic analysis under an additive model; FBAT P-value = 0.04846, Z=1.973 for A/A; FBAT P-value = 0.79963, Z=-0.254 for A/T; FBAT P-value = 0.12131, Z=-1.549 for T/T More...	It showed significant associations (P-value <0.05). We obser...... It showed significant associations (P-value <0.05). We observed the positively associated polymorphism, CAMKK2-E01B with the additive model. More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CAMKK2	calcium/calmodulin-dependent protein kinase kinase 2, beta	12q24.2	2(1/1/0)

SNPs in LD with rs3817190 (count: 1) View in gBrowse (chr12:121274274..121277592 )

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]
rs9805130		intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]

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

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