BDgene

SNP Report

Basic Info
Name rs214950 dbSNP Ensembl
Location chr6:152387175 - 152387175(1)
Variant Alleles G/A
Ancestral Allele G
Minor Allele A
Minor Allele Frequence 0.249002
Functional Annotation missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Polyphen Annotation: benign(ENST00000367255, ENST00000423061); possibly damaging(ENST00000341594)
Consequence to Transcript missense_variant(ENST00000367255, ENST00000423061, ENST00000341594); non_coding_transcript_exon_variant(ENST00000461872); non_coding_transcript_variant(ENST00000461872)
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, W., 2014 A/G Adjusted P (ADD)=2.81E-04, OR=1.345 Adjusted P (ADD)=2.81E-04, OR=1.345 SNPs from top 1000 from our combined CAMH/IoP GWAS for BPAD,...... SNPs from top 1000 from our combined CAMH/IoP GWAS for BPAD, for which at least one other non-overlapping GWAS also shows association at same gene. More... Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
SYNE1 spectrin repeat containing, nuclear envelope 1 6q25.2 6(3/2/1)

SNPs in LD with rs214950 (count: 9) View in gBrowse (chr6:152387175..152440860 )
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: 9)


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

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