SNP Report

Basic Info

Name	rs242950 dbSNP Ensembl
Location	chrCHR_HSCHR17_2_CTG5:45844906 - 45844906(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.0848642
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000580955, ENST00000581479, ENST00000582766); intron_variant(ENST00000293493, ENST00000314537, ENST00000339069, ENST00000347197, ENST00000352855, ENST00000398285, ENST00000535778, ENST00000577353, ENST00000580876, ENST00000583888, ENST00000619154, ENST00000634540, ENST00000634876); NMD_transcript_variant(ENST00000347197, ENST00000535778, ENST00000583888); non_coding_transcript_variant(ENST00000634876, ENST00000611599, ENST00000613260, ENST00000614143, ENST00000615345, ENST00000617446, ENST00000618382, ENST00000632552, ENST00000634107, ENST00000634181, ENST00000616225, ENST00000616274, ENST00000616748, ENST00000617905, ENST00000618144, ENST00000621969, ENST00000631395, ENST00000632383, ENST00000632957, ENST00000633333, ENST00000633723, ENST00000631395, ENST00000632383, ENST00000632957)
No. of Studies	3 (Positive: 0; Negative: 3; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	YES

SNP related studies (count: 3)

Reference	Allele Change	Statistical Values	Author Comments	Result Category
Leszczynska-Rodziewicz A, 2013	C/T	P-value=0.90 P-value=0.90	Neither genotypes nor alleles were significantly associated ...... Neither genotypes nor alleles were significantly associated with melancholic depression. More...	Negative
Szczepankiewicz, A., 2013	C/T	allelic P-value=0.407, genotypic P-value=0.671, OR=0.901, 95...... allelic P-value=0.407, genotypic P-value=0.671, OR=0.901, 95% CI=0.716-1.134 for affective disorder; allelic P-value=0.832, genotypic P-value=0.615, OR=0.877, 95% CI=0.678-1.135 for BD More...	No significant association was observed. No significant association was observed.	Negative
Leszczynska-Rodziewicz, A., 2012	C/T	genotypic P-value = 0.98 genotypic P-value = 0.98	There were no significant differences for other polymorphism...... There were no significant differences for other polymorphisms in the studied group in comparison to the control group. More...	Negative

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
MAPT-AS1	MAPT antisense RNA 1	17q21.31	Mapped by Literature SNP
CRHR1	corticotropin releasing hormone receptor 1	17q21.31	4(2/2/0)

SNPs in LD with rs242950 (count: 0) View in gBrowse (chrCHR_HSCHR17_2_CTG5:45844906..45844906 )

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

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

Reference	Statistical Result	Description	Result Category
Szczepankiewicz, A., 2013	allelic P-value=0.407, genotypic P-value=0.671, OR=0.901, 95% CI=0.716-1.134 for affective disorder; allelic P-value=0.867, genotypic P-value=0.958, OR=0.954, 95% CI=0.686-1.327 for MDD	No significant association was observed.	Negative