SNP Report

Basic Info

Name	rs704326 dbSNP Ensembl
Location	chr1:181790521 - 181790521(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.276358
Functional Annotation	missense_variant. Polyphen Annotation: benign(ENST00000357570, ENST00000358338, ENST00000360108, ENST00000367567, ENST00000367570, ENST00000367573, ENST00000621551, ENST00000621791) SIFT Annotation: tolerated(ENST00000357570, ENST00000358338, ENST00000360108, ENST00000367567, ENST00000367570, ENST00000367573, ENST00000621551, ENST00000621791)
Consequence to Transcript	missense_variant(ENST00000357570, ENST00000358338, ENST00000360108, ENST00000367567, ENST00000367570, ENST00000367573, ENST00000621551, ENST00000621791)
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
Jan, W. C., 2014	G/A		OR=1.8, 95%CI=1.00-3.26, P-value=0.049 for BD-I; OR=0.83, 95...... OR=1.8, 95%CI=1.00-3.26, P-value=0.049 for BD-I; OR=0.83, 95%CI=0.42-1.64, P-value=0.6 for BD-II. More...	The missense SNP, rs704326 in CACNA1E demonstrated a weak as...... The missense SNP, rs704326 in CACNA1E demonstrated a weak association with BP-I (OR=1.80, P=0.049, empirical P=0.053). More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CACNA1E	calcium channel, voltage-dependent, R type, alpha 1E subunit	1q25.3	1(1/0/0)

SNPs in LD with rs704326 (count: 1) View in gBrowse (chr1:181781965..181790521 )

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]
rs2738889		intron_variant	0.91[CHB]; 0.953[JPT]

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

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