SNP Report

Basic Info

Name	rs2075984 dbSNP Ensembl
Location	chr22:38294883 - 38294883(1)
Variant Alleles	C/A
Ancestral Allele	C
Minor Allele	A
Minor Allele Frequence	0.344649
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000405675, ENST00000413574, ENST00000442216, ENST00000451964, ENST00000498529, ENST00000612795); intron_variant(ENST00000359867, ENST00000396832, ENST00000400206, ENST00000403904, ENST00000431611, ENST00000431632); NMD_transcript_variant(ENST00000431611); upstream_gene_variant(ENST00000366216, ENST00000494610, ENST00000495232)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Matsunaga, S.,2012	C/A		Chi square test:MAF = 0.47,P-value = 0.81,OR = 0.99 Chi square test:MAF = 0.47,P-value = 0.81,OR = 0.99	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)
CSNK1E	casein kinase 1, epsilon	22q13.1	5(1/3/1)

SNPs in LD with rs2075984 (count: 0) View in gBrowse (chr22:38294883..38294883 )

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

Reference	Statistical Result	Description	Result Category
Matsunaga, S.,2012	Chi square test:MAF = 0.43,P-value = 0.0091,OR = 0.85;MAF = 0.45,P-value = 0.63,OR = 0.98 in replication;P-value = 0.21,OR = 0.92in meta analysis	The SNP showed a significant association with SZ.	Positive

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

Reference	Statistical Result	Description	Result Category
Matsunaga, S.,2012	Chi square test:MAF = 0.45,P-value = 0.36,OR = 0.93	No significant association was observed.	Negative