BDgene

SNP Report

Basic Info
Name rs562047 dbSNP Ensembl
Location chrCHR_HSCHR6_MHC_QBL_CTG1:31806321 - 31806321(1)
Variant Alleles C/G
Ancestral Allele G
Minor Allele C
Minor Allele Frequence 0.228235
Functional Annotation intron_variant; missense_variant; upstream_gene_variant.
Polyphen Annotation: probably damaging(ENST00000375651, ENST00000430065, ENST00000441618, ENST00000433487); benign(ENST00000400040)
SIFT Annotation: tolerated - low confidence(ENST00000400040); deleterious - low confidence(ENST00000375651, ENST00000430065, ENST00000441618, ENST00000433487)
Consequence to Transcript intron_variant(ENST00000608703); missense_variant(ENST00000375651); upstream_gene_variant(ENST00000375654, ENST00000422919, ENST00000430065, ENST00000426095, ENST00000449876, ENST00000441618, ENST00000456772, ENST00000452298, ENST00000433487, ENST00000417601, ENST00000383389, ENST00000400040, ENST00000383390)
No. of Studies 1 (Positive: 1; Negative: 0; 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
Pae, C. U.,2009 G/C ANOVA: P-value = 0.04 ANOVA: P-value = 0.04 Significant association was observed Significant association was observed Positive

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
HSPA1A heat shock 70kDa protein 1A 6p21.3 2(2/0/0)
HSPA1L heat shock 70kDa protein 1-like 6p21.3 Mapped by Literature SNP


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

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