rs11161614

Organism: Homo sapiens

Alleles: T>G

Gene : Feature

DDAH1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0176 (5277/29950,GnomAD)
G=0163 (4757/29118,TOPMED)
G=0167 (835/5008,1000G)
G=0214 (826/3854,ALSPAC)
G=0231 (857/3708,TWINSUK)

Position: chr1:85432477 (GRCh38.p7) (1p22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 69 Enhancers around

Promoter: 24 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.85432477T>G
GRCh37.p13 chr 1	NC_000001.10:g.85898160T>G

Gene: DDAH1, dimethylarginine dimethylaminohydrolase 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DDAH1 transcript variant 2	NM_001134445.1:c.	N/A	Intron Variant
DDAH1 transcript variant 1	NM_012137.3:c.	N/A	Intron Variant
DDAH1 transcript variant X2	XM_005270707.2:c.	N/A	Intron Variant
DDAH1 transcript variant X3	XM_011541158.1:c.	N/A	Intron Variant
DDAH1 transcript variant X1	XM_017000889.1:c.	N/A	Intron Variant
DDAH1 transcript variant X5	XM_005270710.2:c.	N/A	Genic Upstream Transcript Variant
DDAH1 transcript variant X4	XM_017000890.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.964	G=0.036
1000Genomes	American	Sub	694	T=0.780	G=0.220
1000Genomes	East Asian	Sub	1008	T=0.720	G=0.280
1000Genomes	Europe	Sub	1006	T=0.767	G=0.233
1000Genomes	Global	Study-wide	5008	T=0.833	G=0.167
1000Genomes	South Asian	Sub	978	T=0.880	G=0.120
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.786	G=0.214
The Genome Aggregation Database	African	Sub	8728	T=0.930	G=0.070
The Genome Aggregation Database	American	Sub	836	T=0.770	G=0.230
The Genome Aggregation Database	East Asian	Sub	1608	T=0.703	G=0.297
The Genome Aggregation Database	Europe	Sub	18476	T=0.787	G=0.212
The Genome Aggregation Database	Global	Study-wide	29950	T=0.823	G=0.176
The Genome Aggregation Database	Other	Sub	302	T=0.740	G=0.260
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.836	G=0.163
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.769	G=0.231

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
20209122	Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes.	Abhary S	PLoS One

P-Value

SNP ID	p-value	Traits	Study
rs11161614	0.000858	alcohol dependence	21314694

eQTL of rs11161614 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 rs11161614 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.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	85869864	85870822	E067	-27338
chr1	85915200	85915269	E067	17040
chr1	85915352	85915532	E067	17192
chr1	85859017	85859167	E068	-38993
chr1	85871227	85871274	E068	-26886
chr1	85873377	85873437	E068	-24723
chr1	85873627	85873703	E068	-24457
chr1	85873788	85873873	E068	-24287
chr1	85893717	85893793	E068	-4367
chr1	85910200	85910525	E068	12040
chr1	85912367	85912442	E068	14207
chr1	85912846	85913184	E068	14686
chr1	85913344	85913584	E068	15184
chr1	85914127	85914386	E068	15967
chr1	85914436	85914580	E068	16276
chr1	85915200	85915269	E068	17040
chr1	85915352	85915532	E068	17192
chr1	85917199	85917460	E068	19039
chr1	85918699	85919195	E068	20539
chr1	85872688	85873200	E069	-24960
chr1	85915200	85915269	E069	17040
chr1	85915352	85915532	E069	17192
chr1	85915200	85915269	E070	17040
chr1	85915352	85915532	E070	17192
chr1	85879728	85880090	E071	-18070
chr1	85880172	85880430	E071	-17730
chr1	85893717	85893793	E071	-4367
chr1	85915200	85915269	E071	17040
chr1	85915352	85915532	E071	17192
chr1	85919233	85919571	E071	21073
chr1	85893717	85893793	E072	-4367
chr1	85913344	85913584	E072	15184
chr1	85914127	85914386	E072	15967
chr1	85914436	85914580	E072	16276
chr1	85915200	85915269	E072	17040
chr1	85915352	85915532	E072	17192
chr1	85919233	85919571	E072	21073
chr1	85924980	85925236	E072	26820
chr1	85928370	85928427	E072	30210
chr1	85928694	85928744	E072	30534
chr1	85872688	85873200	E073	-24960
chr1	85873377	85873437	E073	-24723
chr1	85906247	85906335	E073	8087
chr1	85906471	85906612	E073	8311
chr1	85906641	85906715	E073	8481
chr1	85906823	85906919	E073	8663
chr1	85915200	85915269	E073	17040
chr1	85915352	85915532	E073	17192
chr1	85871227	85871274	E074	-26886
chr1	85872688	85873200	E074	-24960
chr1	85879728	85880090	E074	-18070
chr1	85880172	85880430	E074	-17730
chr1	85906471	85906612	E074	8311
chr1	85906641	85906715	E074	8481
chr1	85906823	85906919	E074	8663
chr1	85914127	85914386	E074	15967
chr1	85914436	85914580	E074	16276
chr1	85915200	85915269	E074	17040
chr1	85915352	85915532	E074	17192
chr1	85919233	85919571	E074	21073
chr1	85892783	85893394	E081	-4766
chr1	85893717	85893793	E081	-4367
chr1	85894370	85894502	E081	-3658
chr1	85924980	85925236	E081	26820
chr1	85915200	85915269	E082	17040
chr1	85918699	85919195	E082	20539
chr1	85919233	85919571	E082	21073
chr1	85928370	85928427	E082	30210
chr1	85928694	85928744	E082	30534

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	85929249	85929370	E067	31089
chr1	85929415	85931865	E067	31255
chr1	85929095	85929195	E068	30935
chr1	85929249	85929370	E068	31089
chr1	85929415	85931865	E068	31255
chr1	85929095	85929195	E069	30935
chr1	85929249	85929370	E069	31089
chr1	85929415	85931865	E069	31255
chr1	85929095	85929195	E070	30935
chr1	85929249	85929370	E070	31089
chr1	85929095	85929195	E071	30935
chr1	85929249	85929370	E071	31089
chr1	85929415	85931865	E071	31255
chr1	85929095	85929195	E072	30935
chr1	85929249	85929370	E072	31089
chr1	85929415	85931865	E072	31255
chr1	85929249	85929370	E073	31089
chr1	85929415	85931865	E073	31255
chr1	85929415	85931865	E074	31255
chr1	85929249	85929370	E081	31089
chr1	85929415	85931865	E081	31255
chr1	85929095	85929195	E082	30935
chr1	85929249	85929370	E082	31089
chr1	85929415	85931865	E082	31255