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.

rs_ID	Literature-origin SNPs with LD	Functional Annotation	r²[population]
rs3026469		intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[TSI]

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

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