SNP Report

Basic Info

Name	rs4978584 dbSNP Ensembl
Location	chr9:114424432 - 114424432(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.228235
Functional Annotation	missense_variant. Polyphen Annotation: benign(ENST00000265134, ENST00000362057, ENST00000374059) SIFT Annotation: tolerated(ENST00000265134, ENST00000362057, ENST00000374059)
Consequence to Transcript	missense_variant(ENST00000265134, ENST00000362057, ENST00000374059)
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
Takata, A.,2011(a)	T/C		Fisher's exact test: allele P-value = 0.7097, genotype P-val...... Fisher's exact test: allele P-value = 0.7097, genotype P-value = 0.8363 More...	No significant association was observed in BD. No significant association was observed in BD.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
DFNB31	deafness, autosomal recessive 31	9q32	3(2/1/0)

SNPs in LD with rs4978584 (count: 30) View in gBrowse (chr9:114390022..114428469 )

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: 30)

rs_ID	Functional Annotation	r²[population]
rs10759699	intron_variant	1.0[CHB]; 1.0[JPT]
rs4979383	intron_variant	1.0[CHB]; 1.0[JPT]
rs4979386	intron_variant	1.0[CHB]; 1.0[JPT]
rs4979378	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.901[CHD]; 1.0[JPT]
rs3748174	intron_variant	0.846[CHB]; 0.953[JPT]
rs731421	intron_variant	1.0[CHB]; 1.0[CHD]; 0.953[JPT]
rs10982213	intron_variant; upstream_gene_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs7038862	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.901[CHD]; 1.0[JPT]
rs10982203	intron_variant	1.0[CHB]; 1.0[JPT]
rs10982201	intron_variant	1.0[CHB]; 1.0[JPT]
rs4979375	downstream_gene_variant; intron_variant	0.945[CHB]; 0.878[CHD]; 0.953[JPT]
rs10759694	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.901[CHD]; 1.0[JPT]
rs4979379	intron_variant	1.0[CHB]; 1.0[JPT]
rs10739412	intron_variant	0.846[CHB]; 0.877[CHD]; 0.953[JPT]
rs4979385	intron_variant	0.846[CHB]; 0.86[JPT]
rs12002094	intron_variant; upstream_gene_variant	0.867[JPT]
rs7864759	intron_variant	0.846[CHB]; 0.953[JPT]
rs10081697	intron_variant	0.846[CHB]; 0.953[JPT]
rs10759698	intron_variant	1.0[CHB]; 1.0[JPT]
rs2274163	intron_variant; upstream_gene_variant	0.802[CHB]; 0.854[CHD]; 0.953[JPT]
rs7849013	intron_variant	0.846[CHB]; 0.953[JPT]
rs10739411	intron_variant	0.846[CHB]; 0.901[CHD]; 0.953[JPT]
rs7861409	intron_variant	0.846[CHB]; 0.878[CHD]; 0.953[JPT]
rs10982212	5_prime_UTR_variant; intron_variant	0.841[CHB]; 0.953[JPT]
rs7875262	intron_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs2274162	5_prime_UTR_variant; intron_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs10817607	intron_variant	0.846[CHB]; 0.901[CHD]; 0.953[JPT]
rs10817602	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.901[CHD]; 1.0[JPT]
rs10982193	intron_variant; upstream_gene_variant	0.94[CHB]; 0.953[JPT]
rs2274161	intron_variant	0.846[CHB]; 0.953[JPT]

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

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