SNP Report

Basic Info

Name	rs10519476 dbSNP Ensembl
Location	chr12:68690346 - 68690346(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.184505
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000481005, ENST00000540453); intron_variant(ENST00000229179, ENST00000378905, ENST00000535333, ENST00000535718, ENST00000537598, ENST00000538549, ENST00000539906); NMD_transcript_variant(ENST00000535718); non_coding_transcript_variant(ENST00000535333, ENST00000537598); upstream_gene_variant(ENST00000433116, ENST00000500695, ENST00000502102, ENST00000539373, ENST00000545140)
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
Hattori, E.,2009			In GWAS: Allelic P-value = 0.25158, Genotypic P-value = 0.00...... In GWAS: Allelic P-value = 0.25158, Genotypic P-value = 0.00618, Recessive P-value = 0.04755, HWE P-value = 0.00525; in Follow-up study: MAF=0.19, Allelic P-value = 0.01374, Allelic Q-value=0.50788, HWE P-value = 0.74397 More...	Significant association was observed in both GWAS and Follow...... Significant association was observed in both GWAS and Follow-up study. More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
NUP107	nucleoporin 107kDa	12q14	1(1/0/0)

SNPs in LD with rs10519476 (count: 4) View in gBrowse (chr12:68690346..68756053 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Functional Annotation	r²[population]
rs10878864	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant	0.924[JPT]
rs12146811	intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[CHD]; 0.924[JPT]
rs17572655	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs11608404	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]

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

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