BDgene

SNP Report

Basic Info
Name rs4375 dbSNP Ensembl
Location chr22:38143034 - 38143034(1)
Variant Alleles T/C
Ancestral Allele C
Minor Allele C
Minor Allele Frequence 0.497604
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(ENST00000417303, ENST00000420435, ENST00000426674, ENST00000435484, ENST00000445591, ENST00000447598, ENST00000452972, ENST00000455341); intron_variant(ENST00000332509, ENST00000335539, ENST00000402064, ENST00000427114, ENST00000430886, ENST00000436218, ENST00000452542, ENST00000471636, ENST00000479641, ENST00000498338); non_coding_transcript_exon_variant(ENST00000624072); non_coding_transcript_variant(ENST00000471636, ENST00000479641, ENST00000624072); upstream_gene_variant(ENST00000427453)
No. of Studies 1 (Positive: 0; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Xu, C.,2012 T/C Case-control study :BD,OR = 1.18,chi square = 1.41,P-value <...... Case-control study :BD,OR = 1.18,chi square = 1.41,P-value < 0.05;BD-I,OR = 1.25,chi square = 1.4,P-value < 0.05;BD-II,OR = 0.89,chi square = 0.62,P-value < 0.05;BD-I with a history of psychosis,OR = 0.89,chi square = 0.45,P-value < 0.05;BD-I without a history of psychosis,OR = 1.67,chi square = 4.63,P-value = 0.03;Family based study:Allele T:BD,P > 0.05;BD-I,216/193(T/UT), P = 0.166;BD-I probands with history of psychosis,136/123(T/UT), P = 0.303;BD-I probands without history of psychosis,60/48(T/UT), P = 0.150. More... 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)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) 22q13.1 2(1/1/0)

SNPs in LD with rs4375 (count: 23) View in gBrowse (chr22:38121398..38206133 )
The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r2<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 23)


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

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