SNP Report

Basic Info

Name	rs1051375 dbSNP Ensembl
Location	chr12:2679713 - 2679713(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.473642
Functional Annotation	downstream_gene_variant; intron_variant; non_coding_transcript_variant; synonymous_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000465934); intron_variant(ENST00000501371); non_coding_transcript_variant(ENST00000501371); synonymous_variant(ENST00000327702, ENST00000335762, ENST00000344100, ENST00000347598, ENST00000399591, ENST00000399595, ENST00000399597, ENST00000399601, ENST00000399603, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399641, ENST00000399644, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000616390, LRG_334t1, LRG_334t2, LRG_334t3, LRG_334t4)
No. of Studies	1 (Positive: 1; Negative: 0; 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
Zhang X, 2013	A/G		genotypic P-value=0.005, X²=10.48, allelic P-valu...... genotypic P-value=0.005, X²=10.48, allelic P-value=0.011, OR(95%CI)=1.30(1.06-1.58) More...	Between the BD and control groups, the genotype frequencies ...... Between the BD and control groups, the genotype frequencies of SNP rs1051375 showed a statistically significant difference. At the allele level, the difference of G allele frequency of rs1051375 between BD patients and control subjects was also significant. The frequency of the G allele of rs1051375 was greater in BD patients (39.0%) than in control subjects(33.0%). More...	Positive

SNP related genes (count: 2)

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)
CACNA1C-AS1	CACNA1C antisense RNA 1	12p13.33	Mapped by Literature SNP

SNPs in LD with rs1051375 (count: 0) View in gBrowse (chr12:2679713..2679713 )

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

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

Reference	Statistical Result	Description	Result Category
Zhang X, 2013	genotypic P-value=0.71, X²=0.68, allelic P-value=0.70, OR(95%CI)=0.97(0.83-1.14)	Neither allele nor genotype frequencies of the three SNPs were significantly different between MDD patients and control subjects.	Negative