SNP Report

Basic Info

Name	rs12601930 dbSNP Ensembl
Location	chr17:39633179 - 39633179(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.0557109
Functional Annotation	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000580772); intron_variant(ENST00000254079, ENST00000394265, ENST00000394267, ENST00000492037, ENST00000579000, ENST00000580825, ENST00000582680, ENST00000583446); non_coding_transcript_exon_variant(ENST00000580029); non_coding_transcript_variant(ENST00000492037, ENST00000580029, ENST00000583446); upstream_gene_variant(ENST00000336308, ENST00000394250, ENST00000544210, ENST00000577248, ENST00000578232, ENST00000578254, ENST00000578577, ENST00000579479, ENST00000580551, ENST00000580611, ENST00000581894, ENST00000583582, ENST00000583718, ENST00000585214)
No. of Studies	1 (Positive: 1; Negative: 0; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Yoshimi, A., 2008	C/T	T	Genotypic P-value = 0.000147, Armitage's P-value = 0.804. al...... Genotypic P-value = 0.000147, Armitage's P-value = 0.804. allelic P-value = 0.802 in the first BD sample set. Genotypic P-value = 0.419, Armitage's P-value = 0.192. allelic P-value = 0.191 in the second BD sample set. More...	significant associations with bipolar disorder were observed significant associations with bipolar disorder were observed	Positive

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
STARD3	StAR-related lipid transfer (START) domain containing 3	17q11-q12	Mapped by Literature SNP
PPP1R1B	protein phosphatase 1, regulatory (inhibitor) subunit 1B	17q12	1(0/1/0)

SNPs in LD with rs12601930 (count: 0) View in gBrowse (chr17:39633179..39633179 )

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

Reference	Statistical Result	Description	Result Category
Yoshimi, A., 2008	Genotypic P-value = 0.190, Armitage's P-value = 0.271. allelic P-value = 0.287 in SZ.	Single-marker in a sample set showed that PPP1R1B polymorphisms were not significantly associated with schizophrenia.	Negative

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