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- Data Summary
Gene Report
Approved Symbol | SNAP25 |
---|---|
Previous Symbol | SNAP |
Symbol Alias | SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2 |
Approved Name | synaptosomal-associated protein, 25kDa |
Previous Name | synaptosomal-associated protein, 25kD |
Name Alias | resistance to inhibitors of cholinesterase 4 homolog |
Location | 20p12-p11.2 |
Position | chr20:10199477-10288066, + |
External Links |
HGNC: 11132 Entrez Gene: 6616 Ensembl: ENSG00000132639 UCSC: uc002wnr.1 |
No. of Studies | 18 (significant: 13; non-significant: 5; trend: 0) |
Source | Literature-origin; Mapped by LD-proxy; Mapped by literature SNP |
Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
---|---|---|
Mill J, 2002 | The data from both analyses suggest that SNAP-25 may play a role in the genetic etiology of ADHD. | Significant |
Barr CL, 2000 (a) | TDT of haplotype: P=0.056 for haplotype TT; P=0.030 for haplotype TC; P=1.000 for haplotype GT. The haplotype of the absence of the site for the MnlI polymorphism (T, allele 1) and the presence of the DdeI site (C, allele 2) was significant | Significant |
Gizer IR, 2009 | The 3' UTR SNP rs3746544 yielded evidence of a modest but significant association between childhood ADHD and SNAP-25. | Significant |
Zhang HY, 2011 | a significant association was identified between SNPrs362549 and ADHD subtypes, and the result shows that SNAP-25 is a genetic susceptibility factor for ADHD | Significant |
Ilott NE, 2010 | no SNP showed modest, nominally significant association | Non-significant |
Sarkar, K., 2012 | Haplotypes formed between rs362569 'T', 362988 'G', rs3746544 'T', rs1051312 'T' and rs8636 'C' in different combinations showed statistically significant transmission to ADHD probands. Excepting rs3746544 and rs8636, all the tested sites showed very low linkage disequilibrium between them. Data obtained in this preliminary study indicates that rs3746544 'T' allele may have some role in the disease etiology in the studied Indian population. | Significant |
Kim JW, 2007 | Combined TDT of haplotype defined by rs3746544 & rs1051312: global P-value=0.01 (OR=1.36) | Haplotype association tests for co-morbidities of ADHD: smallest global P-value=0.013 for co-morbid MDD of ADHD. Several SNPs in this gene are significant or trend associated with ADHD or co-morbid MDD of ADHD. A haplotype block of the gene showed positive evidence for association with co-morbid MDD of ADHD. | Significant |
Nyman ES, 2007 | No evidence of association was seen. | Non-significant |
Guan L, 2009 | haplotype association analysis: Nominal P-value=0.021, Empirical P-value=0.378 for ADHD | Nominal P-value=0.032, Empirical P-value=0.491 for ADHD-I | Nominal P-value=0.023, Empirical P-value=0.396 for ADHD-C. 5 SNPs in this gene achieved nominal significance for ADHD/ADHD-I/ADHD-C, and haplotype association test also achieved nominal significance for ADHD and both of subtypes. | Significant |
Renner TJ, 2008 | pair-wise D' values=0.88 (for rs6077690 and rs6039769); pair-wise D' values=0.32 (for rs6077690 and rs363006); pair-wise D' values=0.77 (for rs6039769 and rs363006); haplotype P-value=0.89; no transmission disequilibrium in single nor haplotype analysis | Non-significant |
Feng Y, 2005(b) | there was significant evidence for biased transmission of the alleles of four polymorphisms; haplotype analyses did not reveal any association more informative than single-marker analysis in the Toronto sample and no significant association was identified in the Irvine sample; the findings supported SNAP25 in the susceptibility to ADHD | Significant |
Hawi Z, 2005 | paternal versus maternal transmissions, 9 genes combined TDT P-value=0.0019, X2=9.6 (1df), OR=1.56; TDT P-value=0.007, X2=7.3 when SNAP-25 was removed in sensitivity analysis | Non-significant |
Brookes K, 2006 | UNPHASED TDT P-value=0.0346, global P-value=0.529, WHAP TDT P_sum P-value=0.239; OR=1.29, one or more SNPs with nominal P-value<0.05 located in this gene | Significant |
Choi TK, 2007 | rs3746544 was significantly associated with ADHD in this study | Significant |
Brophy K, 2002 | increased preferential transmission of SNAP-25/DdeI allelel to ADHD cases was found | Significant |
Kustanovich V, 2003 | haplotype TDT P-value=0.027 for paternal transmission, there was a trend consistent with biased transmission of the TC haplotype of SNAP-25 in all transmissions and detected a significant distortion when paternal transmissions were evaluated | Significant |
Mill J, 2004 (b) | 3 variants were significantly associated with ADHD in this study; the most significant haplotype G-4-G, TDT P-value=0.05 for the third haplotype window; the most significant haplotype 4-G-T, TDT P-value=0.04 for the fourth haplotype window; the most significant haplotype G-T-T, TDT P-value=0.04 for the fifth haplotype window; the most significant haplotype T-T-C, TDT P-value=0.03 for the sixth haplotype window; global TDT P-value=0.001 of a three-marker haplotype gave individual significant evidence for association with ADHD; two-marker haplotype (87610T/G and 87614T/C) TDT P-value=0.01, X2=6.22 showed some suggestive evidence for haplotypes of these SNPs being involved in ADHD with the T-T haplotype being over transmitted to ADHD probands | Significant |
Bobb AJ, 2005 | no polymorphism was associated with ADHD | Non-significant |
Literature-origin SNPs (count: 46)
rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
rs8636 | Chr20:10287742(Fwd) | 3_prime_UTR_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant | 4(2/2/0) |
rs2423486 | Chr20:10212212(Fwd) | intron_variant; nc_transcript_variant; non_coding_exon_variant | 2(0/2/0) |
rs2423487 | Chr20:10213095(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs4813925 | Chr20:10286313(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs4813023 | Chr20:10194246(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs4642009 | Chr20:10267726(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs2327264 | Chr20:10206254(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs1051312 | Chr20:10287088(Fwd) | 3_prime_UTR_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant | 10(1/9/0) |
rs2327269 | Chr20:10303128(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs2327265 | Chr20:10218274(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs3025873 | Chr20:10269040(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs6039806 | Chr20:10258654(Fwd) | intron_variant; nc_transcript_variant; non_coding_exon_variant | 3(1/2/0) |
rs6074109 | Chr20:10193294(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs6074121 | Chr20:10290703(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant | 1(0/1/0) |
rs6077690 | Chr20:10197461(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 2(1/1/0) |
rs6077699 | Chr20:10224306(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs6104571 | Chr20:10224750(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs6108464 | Chr20:10283950(Fwd) | intron_variant; nc_transcript_variant | 2(1/1/0) |
rs6039769 | Chr20:10198954(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs3746544 | Chr20:10287084(Fwd) | 3_prime_UTR_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant | 13(5/8/0) |
rs362585 | Chr20:10256252(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs362584 | Chr20:10254475(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs362986 | Chr20:10277034(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant | 1(0/1/0) |
rs362599 | Chr20:10291812(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant | 2(0/2/0) |
rs362562 | Chr20:10243186(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs362555 | Chr20:10309836(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs362569 | Chr20:10246733(Fwd) | intron_variant; nc_transcript_variant | 3(0/3/0) |
rs362567 | Chr20:10246091(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs362553 | Chr20:10299223(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs362549 | Chr20:10269890(Fwd) | intron_variant; nc_transcript_variant | 3(2/1/0) |
rs363021 | Chr20:10241811(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs363035 | Chr20:10218958(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs363040 | Chr20:10221467(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs363050 | Chr20:10234257(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs363006 | Chr20:10280083(Fwd) | intron_variant; nc_transcript_variant | 6(0/6/0) |
rs363012 | Chr20:10219799(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs363014 | Chr20:10228694(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs363020 | Chr20:10237223(Fwd) | intron_variant; nc_transcript_variant | 1(1/0/0) |
rs362987 | Chr20:10277452(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant | 5(1/4/0) |
rs1889189 | Chr20:10197086(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 3(0/3/0) |
rs362988 | Chr20:10281370(Fwd) | intron_variant; nc_transcript_variant | 3(1/2/0) |
rs362993 | Chr20:10276716(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant | 1(1/0/0) |
rs362998 | Chr20:10277621(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant | 2(1/1/0) |
rs2076240 | Chr20:10264922(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
rs3787283 | Chr20:10284418(Fwd) | intron_variant; nc_transcript_variant | 2(1/1/0) |
rs2206161 | Chr20:10334969(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
LD-proxies (count: 71)
rs_ID | Location | Functional Annotation |
---|---|---|
rs363043 | Chr20:10226146(Fwd) | intron_variant; nc_transcript_variant |
rs6514092 | Chr20:10232312(Fwd) | intron_variant; nc_transcript_variant |
rs4813927 | Chr20:10291487(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs6032845 | Chr20:10291007(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs6039791 | Chr20:10233264(Fwd) | intron_variant; nc_transcript_variant |
rs16991263 | Chr20:10215449(Fwd) | intron_variant; nc_transcript_variant |
rs363026 | Chr20:10216902(Fwd) | intron_variant; nc_transcript_variant |
rs6032826 | Chr20:10203817(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs3787303 | Chr20:10208748(Fwd) | intron_variant; nc_transcript_variant |
rs2327266 | Chr20:10218321(Fwd) | intron_variant; nc_transcript_variant |
rs2327267 | Chr20:10218376(Fwd) | intron_variant; nc_transcript_variant |
rs363029 | Chr20:10217497(Fwd) | intron_variant; nc_transcript_variant |
rs6039783 | Chr20:10218034(Fwd) | intron_variant; nc_transcript_variant |
rs1158827 | Chr20:10213542(Fwd) | intron_variant; nc_transcript_variant |
rs6077697 | Chr20:10216048(Fwd) | intron_variant; nc_transcript_variant |
rs2225635 | Chr20:10206117(Fwd) | intron_variant; nc_transcript_variant |
rs363031 | Chr20:10218155(Fwd) | intron_variant; nc_transcript_variant |
rs1013044 | Chr20:10221044(Fwd) | intron_variant; nc_transcript_variant |
rs363011 | Chr20:10217336(Fwd) | intron_variant; nc_transcript_variant |
rs1158497 | Chr20:10217900(Fwd) | intron_variant; nc_transcript_variant |
rs8116632 | Chr20:10247685(Fwd) | intron_variant; nc_transcript_variant |
rs362582 | Chr20:10254287(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs363004 | Chr20:10279797(Fwd) | intron_variant; nc_transcript_variant |
rs362999 | Chr20:10278960(Fwd) | intron_variant; nc_transcript_variant |
rs362547 | Chr20:10245139(Fwd) | intron_variant; nc_transcript_variant |
rs363018 | Chr20:10236231(Fwd) | intron_variant; nc_transcript_variant |
rs6039795 | Chr20:10248123(Fwd) | intron_variant; nc_transcript_variant |
rs362548 | Chr20:10246815(Fwd) | intron_variant; nc_transcript_variant |
rs2284300 | Chr20:10266824(Fwd) | intron_variant; nc_transcript_variant |
rs2284299 | Chr20:10266247(Fwd) | intron_variant; nc_transcript_variant |
rs2284297 | Chr20:10265897(Fwd) | intron_variant; nc_transcript_variant |
rs2076239 | Chr20:10265180(Fwd) | intron_variant; nc_transcript_variant |
rs362995 | Chr20:10277039(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant |
rs362991 | Chr20:10276281(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs362592 | Chr20:10272492(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs362590 | Chr20:10271117(Fwd) | intron_variant; nc_transcript_variant |
rs362574 | Chr20:10253082(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs6039807 | Chr20:10263576(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs6108461 | Chr20:10267270(Fwd) | intron_variant; nc_transcript_variant |
rs362598 | Chr20:10290528(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs6104567 | Chr20:10195433(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs6039792 | Chr20:10234092(Fwd) | intron_variant; nc_transcript_variant |
rs12626080 | Chr20:10233052(Fwd) | intron_variant; nc_transcript_variant |
rs363016 | Chr20:10231174(Fwd) | intron_variant; nc_transcript_variant |
rs363015 | Chr20:10228699(Fwd) | intron_variant; nc_transcript_variant |
rs6077722 | Chr20:10266088(Fwd) | intron_variant; nc_transcript_variant |
rs6077719 | Chr20:10261759(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs4510293 | Chr20:10257761(Fwd) | intron_variant; nc_transcript_variant |
rs6077712 | Chr20:10250288(Fwd) | intron_variant; nc_transcript_variant |
rs363030 | Chr20:10218139(Fwd) | intron_variant; nc_transcript_variant |
rs12480983 | Chr20:10278715(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs362588 | Chr20:10270925(Fwd) | intron_variant; nc_transcript_variant |
rs3025879 | Chr20:10292077(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs362600 | Chr20:10292231(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs6039820 | Chr20:10282027(Fwd) | intron_variant; nc_transcript_variant |
rs6077718 | Chr20:10261142(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs6133845 | Chr20:10263915(Fwd) | intron_variant; nc_transcript_variant |
rs6032832 | Chr20:10241394(Fwd) | intron_variant; nc_transcript_variant |
rs6039793 | Chr20:10241483(Fwd) | intron_variant; nc_transcript_variant |
rs6077706 | Chr20:10240238(Fwd) | intron_variant; nc_transcript_variant |
rs6074113 | Chr20:10242011(Fwd) | intron_variant; nc_transcript_variant |
rs16991334 | Chr20:10261917(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs4813024 | Chr20:10237816(Fwd) | intron_variant; nc_transcript_variant |
rs362990 | Chr20:10276221(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs6032829 | Chr20:10230291(Fwd) | intron_variant; nc_transcript_variant |
rs363038 | Chr20:10219937(Fwd) | intron_variant; nc_transcript_variant |
rs363032 | Chr20:10218644(Fwd) | intron_variant; nc_transcript_variant |
rs3787300 | Chr20:10218793(Fwd) | intron_variant; nc_transcript_variant |
rs363036 | Chr20:10219212(Fwd) | intron_variant; nc_transcript_variant |
rs363037 | Chr20:10219925(Fwd) | intron_variant; nc_transcript_variant |
rs41378446 | Chr20:10280439(Fwd) | intron_variant; nc_transcript_variant |
Variant Name | Variant Type | Location in Gene | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
SNAP25_hCV2488338 | point mutation | 1 (0/1/0) | |
SNAP25_hCV27368320_T/C | point mutation | 1 (0/1/0) | |
SNAP25_intron3_C-2488338-10 | point mutation | intron 3 | 1 (0/1/0) |
SNAP25_promoter_(TG)n | microsatellite | promoter | 1 (0/1/0) |
SNAP25_promoter_-2015A/T | point mutation | promoter | 1 (1/0/0) |
SNAP25_promoter_-900G/T | point mutation | promoter | 1 (0/1/0) |
SNAP25_3'-UTR_88268T/C | point mutation | 3' UTR | 1 (0/1/0) |
SNAP25_5'-UTR_(ATTT)n | microsatellite | 5' UTR; between the 5' UTR and the first transcribed exon of the SNAP25 gene | 4 (2/2/0) |
SNAP25_exon7_80609G/A | point mutation | exon 7 | 1 (1/0/0) |
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 22)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa04130 | SNARE interactions in vesicular transport | 20 |
Region: chr20:10199477..10288066 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014