SNP Report

Basic Info

Name	rs10848642 dbSNP Ensembl
Location	chr12:2222406 - 2222406(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.296126
Functional Annotation	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000327702, ENST00000335762, ENST00000344100, ENST00000347598, ENST00000399591, ENST00000399595, ENST00000399597, ENST00000399601, ENST00000399603, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399641, ENST00000399644, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000480911, LRG_334t1, LRG_334t2, LRG_334t3, LRG_334t4); non_coding_transcript_exon_variant(ENST00000544415); non_coding_transcript_variant(ENST00000544415); upstream_gene_variant(ENST00000613391)
No. of Studies	2 (Positive: 0; Negative: 2; 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
Fiorentino A., 2014	G/A		eurMLP=1.32 eurMLP=1.32	No significant association was observed. No significant association was observed.	Negative
Chen, D. T.,2011		G	Meta-analysis results by ancestry: European and Asian-ancest...... Meta-analysis results by ancestry: European and Asian-ancestry phase I samples: Fixed effects P-value = 2.80E-07, Random effects P-value = 1.61E-05, I²=56.12, Q test=11.39, Q test P-value = 0.044 More...	No significant association was observed in BD. No significant association was observed in BD.	Negative

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CACNA1C-AS4	CACNA1C antisense RNA 4	12p13.33	Mapped by Literature SNP
CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12p13.3	20(17/3/0)

SNPs in LD with rs10848642 (count: 33) View in gBrowse (chr12:2183524..2223629 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Functional Annotation	r²[population]
rs10848636	intron_variant	0.92[CEU]
rs2238053	intron_variant	0.92[CEU]
rs2238048	intron_variant	0.876[CEU]
rs10848629	intron_variant	0.92[CEU]
rs11062145	intron_variant	0.882[CEU]
rs10848628	intron_variant	0.92[CEU]
rs10774030	intron_variant	0.882[CEU]
rs10848637	intron_variant	0.85[CEU]
rs2239018	intron_variant	0.92[CEU]
rs2238054	intron_variant	0.92[CEU]
rs10848632	intron_variant	0.92[CEU]
rs2239019	intron_variant	0.92[CEU]
rs4765670	intron_variant	0.915[CEU]
rs758171	intron_variant	0.882[CEU]
rs758174	intron_variant	0.913[CEU]
rs2283287	intron_variant	0.879[CEU]
rs11062156	intron_variant	0.92[CEU]
rs2238046	intron_variant	0.882[CEU]
rs2283288	intron_variant	0.882[CEU]
rs10744559	intron_variant	0.88[CEU]
rs758173	intron_variant	0.917[CEU]
rs1108221	intron_variant; upstream_gene_variant	1.0[CEU]
rs2238052	intron_variant	0.881[CEU]
rs2238049	intron_variant	0.953[CEU]
rs10774033	intron_variant	0.903[CEU]
rs12422554	intron_variant	0.92[CEU]
rs10848633	intron_variant	0.92[CEU]
rs7957545	downstream_gene_variant; intron_variant	0.92[CEU]
rs10848634	intron_variant	0.92[CEU]
rs4765902	intron_variant	0.92[CEU]
rs10459125	intron_variant	0.92[CEU]
rs10848627	intron_variant	0.915[CEU]
rs2238050	intron_variant	0.92[CEU]

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

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