SNP Report

Basic Info

Name	rs4468 dbSNP Ensembl
Location	chr22:49774004 - 49774004(1)
Variant Alleles	T/C
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.46226
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000216267, ENST00000404034, ENST00000404760, ENST00000438393, ENST00000457780); downstream_gene_variant(ENST00000479985); NMD_transcript_variant(ENST00000438393)
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
Severinsen, J. E., 2006 (b)	T/C		P-value = 0.7814 in BD, P-value = 0.0215 in BD and SZ P-value = 0.7814 in BD, P-value = 0.0215 in BD and SZ	Significant single-marker associations were observed for two...... Significant single-marker associations were observed for two BRD1 SNPs in the combined group, but not with BPD. More...	Positive
Nyegaard, M., 2010	T/C			None of the 11 Sequenom SNPs showed association with BPD. None of the 11 Sequenom SNPs showed association with BPD.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
BRD1	bromodomain containing 1	22q13.33	2(2/0/0)

SNPs in LD with rs4468 (count: 0) View in gBrowse (chr22:49774004..49774004 )

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

Reference	Statistical Result	Description	Result Category
Nyegaard, M., 2010	P-value = 0.61, OR=1.05 in UK/DK sample	Nominal significant association with SZ	Positive
Severinsen, J. E., 2006 (b)	P-value = 0.0088 in SZ, P-value = 0.0215 in BD and SZ	SNP rs4468 and D22S1169 showed significant association with SZ but not with BPD.	Positive

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