ADHDgene Database

SNP Report

Basic Info

Name	rs550818 dbSNP Ensembl
Location	Chr17:27901975(Fwd)
Variant Alleles	A/G
Ancestral Allele	G
Functional Annotation	NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; nc_transcript_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000578670) downstream_gene_variant(ENST00000581925; ENST00000378818; ENST00000579050; ENST00000585148; ENST00000301057; ENST00000579674; ENST00000491377; ENST00000578266; ENST00000586574; ENST00000582829; ENST00000581411; ENST00000577934; ENST00000580183; ENST00000583940; ENST00000578749) intron_variant(ENST00000225394; ENST00000578670; ENST00000581474; ENST00000581348; ENST00000473217; ENST00000394869) missense_variant(ENST00000579937) nc_transcript_variant(ENST00000581474; ENST00000473217)
No. of Studies	2 (significant: 1; non-significant: 1; trend: 0)
Source	Literature-origin

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Salatino-Oliveira, A., 2012	C/T		TT genotype: P-value=0.862, OR=1.087, 95% CI=0.42¨C2.79 for ...... TT genotype: P-value=0.862, OR=1.087, 95% CI=0.42¨C2.79 for model 1; P-value=0.245, OR=0.782, 95% CI=0.516¨C1.184 for model 2; CT genotype: P-value=0.184, OR=0.749, 95% CI=0.49¨C1.15 for model 1; CC genotype: OR=1 for model 1 and 2. TDT P-value=0.761, z =0.305 More...	Adjusting for gender, age and IQ score, no effect of GIT1 ge...... Adjusting for gender, age and IQ score, no effect of GIT1 genotypes on ADHD susceptibility was observed in the case-control analysis. With the TDT test, we did not detect the overtransmission of any rs550818 allele (C or T ) from parents to ADHD children. More...	Non-significant
Won H, 2011	C/T		logistic regression P-value=0.0056, adjusted OR=2.66 for CT ...... logistic regression P-value=0.0056, adjusted OR=2.66 for CT genotype More...	rs550818 (C>T), located in intron 20 of GIT1, associated wit...... rs550818 (C>T), located in intron 20 of GIT1, associated with ADHD susceptibility after Bonferroni correction (significance level alpha=0.050/8=0.00625) for multiple testing More...	Significant

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
GIT1	G protein-coupled receptor kinase interacting ArfGAP 1	17p11.2	2(1/1/0)

Approved Symbol	Approved Name	Location
TP53I13	tumor protein p53 inducible protein 13	17q11.2

SNPs in LD with rs550818 (count: 5) View in gBrowse (chr17:27895528..27907486 )

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]
rs3115096	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[ASW]; 1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 1.0[LWK]; 1.0[MEX]; 1.0[MKK]; 1.0[TSI]; 1.0[YRI]
rs563976	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[ASW]; 1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 0.923[LWK]; 1.0[MEX]; 0.865[MKK]; 1.0[TSI]; 1.0[YRI]
rs614334	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1.0[ASW]; 1.0[CEU]; 1.0[CHB]; 1.0[CHD]; 1.0[GIH]; 1.0[JPT]; 0.923[LWK]; 1.0[MEX]; 0.865[MKK]; 1.0[TSI]; 1.0[YRI]
rs565977	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant	0.906[CEU]; 0.846[TSI]
rs497993	5_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; splice_donor_variant; upstream_gene_variant	0.951[CEU]; 0.846[TSI]