SNP Report

Basic Info

Name	rs5848 dbSNP Ensembl
Location	chr17:44352876 - 44352876(1)
Variant Alleles	C/T
Ancestral Allele	T
Minor Allele	T
Minor Allele Frequence	0.424521
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000053867, ENST00000586242, ENST00000586443, ENST00000589265, LRG_661t1); downstream_gene_variant(ENST00000293443, ENST00000585348, ENST00000585512, ENST00000586782, ENST00000587109, ENST00000587387, ENST00000587518, ENST00000587958, ENST00000588067, ENST00000588143, ENST00000588170, ENST00000588237, ENST00000589407, ENST00000589536, ENST00000589923, ENST00000590984, ENST00000591740, ENST00000592323, ENST00000592783, ENST00000593167)
No. of Studies	2 (Positive: 1; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Galimberti, D., 2014	C/T	T	Chi-square test, Bonferroniâ€™s correction: P-value = 0.024,...... Chi-square test, Bonferroniâ€™s correction: P-value = 0.024, OR = 0.55, 95%CI: 0.33â€“0.93 for BD-I; P-value > 0.05 for BD-II More...	When patients were stratified into BD-I and BD-II groups, a ...... When patients were stratified into BD-I and BD-II groups, a significantly decreased allelic frequency of the rs5848T allele was observed in the former (21.5% versus 32.5% in controls; OR = 0.55, CI: 0.33â€“0.93; p = 0.024) but not in the latter group (29.1%; p > 0.05 versus controls. More...	Positive
Galimberti, D.,2012	C/T		Association analysis: chi square test, genotype P-value > 0....... Association analysis: chi square test, genotype P-value > 0.05; allele P-value > 0.05 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)
FAM171A2	family with sequence similarity 171, member A2	17q21.31	Mapped by Literature SNP
GRN	granulin	17q21.32	2(2/0/0)

SNPs in LD with rs5848 (count: 0) View in gBrowse (chr17:44352876..44352876 )

Overlap with SZ from cross-disorder studies (count: 2)

Reference	Statistical Result	Description	Result Category
Galimberti, D., 2014		Tagging single nucleotide polymorphisms (SNPs) rs2879096 and rs4792938, along with rs5848, previously shown to be associated with BD and schizophrenia	Positive
Galimberti, D.,2012	Association analysis:chi square test, genotype P-value = 0.01, OR: 0.51, 95%CI: 0.30-0.85;allele P-value < 0.0001, OR: 0.53, 95%CI: 0.39-0.72	Significant association was observed in SZ.	Positive

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