rs17759625

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

DNAH6 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0281 (8410/29930,GnomAD)
G=0237 (6901/29116,TOPMED)
G=0361 (1810/5008,1000G)
G=0294 (1132/3854,ALSPAC)
G=0293 (1087/3708,TWINSUK)

Position: chr2:84588560 (GRCh38.p7) (2p11.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.84588560A>G
GRCh37.p13 chr 2	NC_000002.11:g.84815684A>G

Gene: DNAH6, dynein axonemal heavy chain 6(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DNAH6 transcript	NM_001370.1:c.	N/A	Intron Variant
DNAH6 transcript variant X3	XM_006711956.2:c.	N/A	Intron Variant
DNAH6 transcript variant X1	XM_011532649.2:c.	N/A	Intron Variant
DNAH6 transcript variant X2	XM_011532650.2:c.	N/A	Intron Variant
DNAH6 transcript variant X4	XM_011532652.1:c.	N/A	Intron Variant
DNAH6 transcript variant X5	XM_011532653.1:c.	N/A	Intron Variant
DNAH6 transcript variant X7	XM_011532654.1:c.	N/A	Intron Variant
DNAH6 transcript variant X8	XM_011532655.2:c.	N/A	Intron Variant
DNAH6 transcript variant X11	XM_011532657.1:c.	N/A	Intron Variant
DNAH6 transcript variant X12	XM_011532660.1:c.	N/A	Intron Variant
DNAH6 transcript variant X6	XM_017003521.1:c.	N/A	Intron Variant
DNAH6 transcript variant X9	XM_017003522.1:c.	N/A	Intron Variant
DNAH6 transcript variant X10	XM_017003523.1:c.	N/A	Intron Variant
DNAH6 transcript variant X13	XM_017003524.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.868	G=0.132
1000Genomes	American	Sub	694	A=0.560	G=0.440
1000Genomes	East Asian	Sub	1008	A=0.327	G=0.673
1000Genomes	Europe	Sub	1006	A=0.668	G=0.332
1000Genomes	Global	Study-wide	5008	A=0.639	G=0.361
1000Genomes	South Asian	Sub	978	A=0.670	G=0.330
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.706	G=0.294
The Genome Aggregation Database	African	Sub	8726	A=0.854	G=0.146
The Genome Aggregation Database	American	Sub	836	A=0.520	G=0.480
The Genome Aggregation Database	East Asian	Sub	1606	A=0.385	G=0.615
The Genome Aggregation Database	Europe	Sub	18462	A=0.695	G=0.304
The Genome Aggregation Database	Global	Study-wide	29930	A=0.719	G=0.281
The Genome Aggregation Database	Other	Sub	300	A=0.590	G=0.410
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.763	G=0.237
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.707	G=0.293

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res

P-Value

SNP ID	p-value	Traits	Study
rs17759625	0.000612	alcohol dependence	21314694

eQTL of rs17759625 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs17759625 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.