SNP Report

Basic Info

Name	rs7220988 dbSNP Ensembl
Location	chrCHR_HSCHR17_2_CTG5:46043717 - 46043717(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.312899
Functional Annotation	downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant. Polyphen Annotation: possibly damaging(ENST00000610328, ENST00000613150, ENST00000622036, ENST00000633346, ENST00000633819); benign(ENST00000262419, ENST00000432791, ENST00000572904, ENST00000574590, ENST00000575318, ENST00000611596, ENST00000626533, ENST00000627698, ENST00000629551, ENST00000630200) SIFT Annotation: tolerated(ENST00000262419, ENST00000432791, ENST00000572904, ENST00000574590, ENST00000575318, ENST00000611596, ENST00000626533, ENST00000627698, ENST00000629551, ENST00000630200, ENST00000610328, ENST00000613150, ENST00000622036, ENST00000633346, ENST00000633819)
Consequence to Transcript	downstream_gene_variant(ENST00000262410, ENST00000340799, ENST00000344290, ENST00000351559, ENST00000446361, ENST00000535772, ENST00000573682, ENST00000576137); missense_variant(ENST00000262419, ENST00000432791, ENST00000572904, ENST00000574590, ENST00000575318); non_coding_transcript_exon_variant(ENST00000572218, ENST00000574963, ENST00000576870); non_coding_transcript_variant(ENST00000572218, ENST00000574963, ENST00000576870); upstream_gene_variant(ENST00000570454, ENST00000625290, ENST00000626571, ENST00000631355, ENST00000611596, ENST00000626533, ENST00000627698, ENST00000629551, ENST00000630200, ENST00000626891, ENST00000628965, ENST00000629700, ENST00000626891, ENST00000628965, ENST00000629700, ENST00000630719, ENST00000612872, ENST00000618029, ENST00000618825, ENST00000620070, ENST00000620818, ENST00000622106, ENST00000631434, ENST00000632323, ENST00000610328, ENST00000613150, ENST00000622036, ENST00000633346, ENST00000633819, ENST00000632100, ENST00000632594, ENST00000633505, ENST00000632100, ENST00000632594, ENST00000633505, ENST00000632682)
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
Ceulemans, S.,2011	A/G		Single SNP analyses: Permuted P-value = 0.5945, Odds Ratio=1...... Single SNP analyses: Permuted P-value = 0.5945, Odds Ratio=1.071 More...	No significant association was observed. No significant association was observed.	Negative

SNP related genes (count: 3)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
MAPT	microtubule-associated protein tau	17q21	Mapped by Literature SNP
KANSL1	KAT8 regulatory NSL complex subunit 1	17q21.31	Mapped by Literature SNP
CRHR1	corticotropin releasing hormone receptor 1	17q21.31	4(2/2/0)

SNPs in LD with rs7220988 (count: 12) View in gBrowse (chrCHR_HSCHR17_2_CTG5:46033040..46197183 )

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: 12)

rs_ID	Functional Annotation	r²[population]
rs9904766	intron_variant; non_coding_transcript_variant	0.831[CEU]
rs10514899	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]
rs2732588	intron_variant	0.815[CEU]
rs7206949	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.959[CEU]; 0.899[TSI]
rs916896	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.958[CEU]
rs8064802	intron_variant	0.831[CEU]
rs7521	3_prime_UTR_variant; downstream_gene_variant	0.848[CEU]; 0.88[TSI]
rs7213077	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	0.821[CEU]
rs6503455	intron_variant; non_coding_transcript_variant	1.0[CEU]; 0.897[TSI]
rs8070420	intron_variant; non_coding_transcript_variant	0.959[CEU]
rs2696588	intron_variant; non_coding_transcript_variant	0.815[CEU]
rs4792827	intron_variant; non_coding_transcript_variant	0.815[CEU]; 0.853[TSI]

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

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