BDgene

SNP Report

Basic Info
Name rs34684319 dbSNP Ensembl
Location chr12:110129102 - 110129102(1)
Variant Alleles A/G
Ancestral Allele A
Minor Allele G
Minor Allele Frequence 0.0171725
Functional Annotation missense_variant; NMD_transcript_variant; upstream_gene_variant.
Polyphen Annotation: probably damaging(ENST00000242591, ENST00000361948, ENST00000546374, ENST00000550156, ENST00000552912)
SIFT Annotation: deleterious(ENST00000242591, ENST00000361948, ENST00000546374, ENST00000550156, ENST00000552912)
Consequence to Transcript missense_variant(ENST00000242591, ENST00000361948, ENST00000546374, ENST00000550156, ENST00000552912); NMD_transcript_variant(ENST00000550156); upstream_gene_variant(ENST00000551273)
No. of Studies 1 (Positive: 0; Negative: 0; Trend: 1)
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
Georgi, B., 2014 A/G 7 in BPI, 6 in Well 7 in BPI, 6 in Well Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More... Trend

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
IFT81 intraflagellar transport 81 12q24.13 1(0/0/1)

SNPs in LD with rs34684319 (count: 1) View in gBrowse (chr12:110129102..110320546 )
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: 1)


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

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