SNP Report

Basic Info

Name	rs112532048 dbSNP Ensembl
Location	chr12:2585485 - 2585485(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.00159744
Functional Annotation	missense_variant. Polyphen Annotation: benign(ENST00000327702, ENST00000335762, ENST00000399591, ENST00000399595, ENST00000399601, ENST00000399603, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000480911, LRG_334t1, LRG_334t3); possibly damaging(ENST00000344100, ENST00000347598, ENST00000399597, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399641, ENST00000399644, ENST00000465278, LRG_334t2, LRG_334t4) SIFT Annotation: tolerated(ENST00000327702, ENST00000335762, ENST00000399591, ENST00000399595, ENST00000399601, ENST00000399603, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000480911, LRG_334t1, LRG_334t3, ENST00000344100, ENST00000347598, ENST00000399597, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399641, ENST00000399644, ENST00000465278, LRG_334t2, LRG_334t4)
Consequence to Transcript	missense_variant(ENST00000327702, ENST00000335762, ENST00000399591, ENST00000399595, ENST00000399601, ENST00000399603, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000480911, LRG_334t1, LRG_334t3, ENST00000344100, ENST00000347598, ENST00000399597, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399641, ENST00000399644, ENST00000465278, LRG_334t2, LRG_334t4)
No. of Studies	1 (Positive: 0; Negative: 1; 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
Fiorentino A., 2014	C/T		eurMLP=0.37 eurMLP=0.37	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)
CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12p13.3	20(17/3/0)

SNPs in LD with rs112532048 (count: 0) View in gBrowse (chr12:2585485..2585485 )

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

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