ADHDgene Database

SNP Report

Basic Info

Name	rs4547389 dbSNP Ensembl
Location	Chr17:28364768(Fwd)
Variant Alleles	T/C
Ancestral Allele	T
Functional Annotation	NMD_transcript_variant; intron_variant; nc_transcript_variant.
Consequence to Transcript	NMD_transcript_variant(ENST00000440741; ENST00000423598) intron_variant(ENST00000536908; ENST00000419434; ENST00000588978; ENST00000440741; ENST00000423598; ENST00000394835; ENST00000584826; ENST00000378738; ENST00000394832; ENST00000320856; ENST00000541045) nc_transcript_variant(ENST00000584826)
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	LD-proxy

SNP related studies (count: 0)

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location
EFCAB5	EF-hand calcium binding domain 5	17q11.2

SNPs in LD with rs4547389 (count: 5) View in gBrowse (chr17:28364768..28528842 )

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	#studies(significant/non-significant/trend)	r²[population]

rs4325622	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)	0.889[CEU]
rs3813034	3_prime_UTR_variant; downstream_gene_variant	4(0/4/0)	0.889[CEU]; 0.87[MEX]
rs1042173	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant	1(0/1/0)	0.889[CEU]; 0.911[MEX]
rs1979572	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant	1(1/0/0)	0.925[CEU]
rs11080121	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)	0.846[CEU]