rs10800913

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

FMOD : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0155 (4647/29898,GnomAD)
G==0189 (5510/29118,TOPMED)
G==0192 (960/5008,1000G)
G==0103 (398/3854,ALSPAC)
G==0107 (397/3708,TWINSUK)

Position: chr1:203346765 (GRCh38.p7) (1q32.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 242 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.203346765G>A
GRCh37.p13 chr 1	NC_000001.10:g.203315893G>A

Gene: FMOD, fibromodulin(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FMOD transcript variant 1	NM_002023.4:c.	N/A	Intron Variant
FMOD transcript variant 2	NR_103757.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.232	A=0.768
1000Genomes	American	Sub	694	G=0.150	A=0.850
1000Genomes	East Asian	Sub	1008	G=0.278	A=0.722
1000Genomes	Europe	Sub	1006	G=0.095	A=0.905
1000Genomes	Global	Study-wide	5008	G=0.192	A=0.808
1000Genomes	South Asian	Sub	978	G=0.180	A=0.820
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.103	A=0.897
The Genome Aggregation Database	African	Sub	8674	G=0.247	A=0.753
The Genome Aggregation Database	American	Sub	834	G=0.200	A=0.800
The Genome Aggregation Database	East Asian	Sub	1618	G=0.287	A=0.713
The Genome Aggregation Database	Europe	Sub	18470	G=0.099	A=0.900
The Genome Aggregation Database	Global	Study-wide	29898	G=0.155	A=0.844
The Genome Aggregation Database	Other	Sub	302	G=0.140	A=0.860
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.189	A=0.810
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.107	A=0.893

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs10800913	0.000854	alcohol consumption (maxi-drinks)	24277619

eQTL of rs10800913 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 rs10800913 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	203273078	203273533	E067	-42360
chr1	203291757	203292368	E067	-23525
chr1	203292380	203292547	E067	-23346
chr1	203292553	203292734	E067	-23159
chr1	203292748	203295313	E067	-20580
chr1	203295315	203295526	E067	-20367
chr1	203295565	203295728	E067	-20165
chr1	203308074	203308191	E067	-7702
chr1	203309001	203309591	E067	-6302
chr1	203309745	203309811	E067	-6082
chr1	203309883	203309935	E067	-5958
chr1	203318752	203318804	E067	2859
chr1	203318893	203318978	E067	3000
chr1	203319095	203319238	E067	3202
chr1	203319270	203319360	E067	3377
chr1	203319399	203319578	E067	3506
chr1	203323303	203323701	E067	7410
chr1	203335687	203335956	E067	19794
chr1	203336296	203336499	E067	20403
chr1	203336577	203336666	E067	20684
chr1	203336687	203336737	E067	20794
chr1	203348419	203348794	E067	32526
chr1	203348823	203349006	E067	32930
chr1	203349016	203349257	E067	33123
chr1	203350601	203350805	E067	34708
chr1	203350853	203351011	E067	34960
chr1	203273078	203273533	E068	-42360
chr1	203289549	203290773	E068	-25120
chr1	203290990	203291040	E068	-24853
chr1	203291068	203291178	E068	-24715
chr1	203291311	203291729	E068	-24164
chr1	203291757	203292368	E068	-23525
chr1	203292380	203292547	E068	-23346
chr1	203292553	203292734	E068	-23159
chr1	203292748	203295313	E068	-20580
chr1	203295315	203295526	E068	-20367
chr1	203295565	203295728	E068	-20165
chr1	203297584	203297915	E068	-17978
chr1	203309001	203309591	E068	-6302
chr1	203311253	203311484	E068	-4409
chr1	203311506	203312080	E068	-3813
chr1	203318752	203318804	E068	2859
chr1	203318893	203318978	E068	3000
chr1	203319095	203319238	E068	3202
chr1	203319270	203319360	E068	3377
chr1	203319399	203319578	E068	3506
chr1	203328427	203328521	E068	12534
chr1	203335687	203335956	E068	19794
chr1	203336296	203336499	E068	20403
chr1	203336577	203336666	E068	20684
chr1	203336687	203336737	E068	20794
chr1	203336819	203336892	E068	20926
chr1	203273078	203273533	E069	-42360
chr1	203290990	203291040	E069	-24853
chr1	203291068	203291178	E069	-24715
chr1	203291311	203291729	E069	-24164
chr1	203291757	203292368	E069	-23525
chr1	203292380	203292547	E069	-23346
chr1	203292553	203292734	E069	-23159
chr1	203292748	203295313	E069	-20580
chr1	203295315	203295526	E069	-20367
chr1	203295565	203295728	E069	-20165
chr1	203297584	203297915	E069	-17978
chr1	203309001	203309591	E069	-6302
chr1	203318752	203318804	E069	2859
chr1	203318893	203318978	E069	3000
chr1	203319095	203319238	E069	3202
chr1	203319270	203319360	E069	3377
chr1	203319399	203319578	E069	3506
chr1	203331091	203331568	E069	15198
chr1	203335687	203335956	E069	19794
chr1	203336296	203336499	E069	20403
chr1	203336577	203336666	E069	20684
chr1	203336687	203336737	E069	20794
chr1	203266062	203266123	E070	-49770
chr1	203266168	203266258	E070	-49635
chr1	203266313	203266402	E070	-49491
chr1	203268339	203268752	E070	-47141
chr1	203289219	203289307	E070	-26586
chr1	203289325	203289510	E070	-26383
chr1	203289549	203290773	E070	-25120
chr1	203290990	203291040	E070	-24853
chr1	203291068	203291178	E070	-24715
chr1	203291311	203291729	E070	-24164
chr1	203291757	203292368	E070	-23525
chr1	203292380	203292547	E070	-23346
chr1	203292553	203292734	E070	-23159
chr1	203292748	203295313	E070	-20580
chr1	203297584	203297915	E070	-17978
chr1	203297933	203298350	E070	-17543
chr1	203308668	203308827	E070	-7066
chr1	203309001	203309591	E070	-6302
chr1	203309745	203309811	E070	-6082
chr1	203289325	203289510	E071	-26383
chr1	203289549	203290773	E071	-25120
chr1	203290990	203291040	E071	-24853
chr1	203291068	203291178	E071	-24715
chr1	203291311	203291729	E071	-24164
chr1	203291757	203292368	E071	-23525
chr1	203292380	203292547	E071	-23346
chr1	203292553	203292734	E071	-23159
chr1	203292748	203295313	E071	-20580
chr1	203295315	203295526	E071	-20367
chr1	203295565	203295728	E071	-20165
chr1	203304743	203304913	E071	-10980
chr1	203305067	203305192	E071	-10701
chr1	203305296	203305774	E071	-10119
chr1	203309001	203309591	E071	-6302
chr1	203309745	203309811	E071	-6082
chr1	203311506	203312080	E071	-3813
chr1	203312124	203312228	E071	-3665
chr1	203318752	203318804	E071	2859
chr1	203318893	203318978	E071	3000
chr1	203319095	203319238	E071	3202
chr1	203319270	203319360	E071	3377
chr1	203319399	203319578	E071	3506
chr1	203323303	203323701	E071	7410
chr1	203335687	203335956	E071	19794
chr1	203336296	203336499	E071	20403
chr1	203336577	203336666	E071	20684
chr1	203336687	203336737	E071	20794
chr1	203336819	203336892	E071	20926
chr1	203348419	203348794	E071	32526
chr1	203348823	203349006	E071	32930
chr1	203349016	203349257	E071	33123
chr1	203273078	203273533	E072	-42360
chr1	203289549	203290773	E072	-25120
chr1	203290990	203291040	E072	-24853
chr1	203291068	203291178	E072	-24715
chr1	203291311	203291729	E072	-24164
chr1	203291757	203292368	E072	-23525
chr1	203292380	203292547	E072	-23346
chr1	203292553	203292734	E072	-23159
chr1	203292748	203295313	E072	-20580
chr1	203295315	203295526	E072	-20367
chr1	203295565	203295728	E072	-20165
chr1	203318752	203318804	E072	2859
chr1	203318893	203318978	E072	3000
chr1	203319095	203319238	E072	3202
chr1	203319270	203319360	E072	3377
chr1	203319399	203319578	E072	3506
chr1	203323303	203323701	E072	7410
chr1	203335687	203335956	E072	19794
chr1	203336296	203336499	E072	20403
chr1	203336577	203336666	E072	20684
chr1	203336687	203336737	E072	20794
chr1	203336819	203336892	E072	20926
chr1	203348823	203349006	E072	32930
chr1	203349016	203349257	E072	33123
chr1	203349476	203349567	E072	33583
chr1	203349673	203349723	E072	33780
chr1	203349739	203349793	E072	33846
chr1	203350175	203350586	E072	34282
chr1	203273078	203273533	E073	-42360
chr1	203289549	203290773	E073	-25120
chr1	203290990	203291040	E073	-24853
chr1	203291068	203291178	E073	-24715
chr1	203291311	203291729	E073	-24164
chr1	203291757	203292368	E073	-23525
chr1	203292380	203292547	E073	-23346
chr1	203292553	203292734	E073	-23159
chr1	203292748	203295313	E073	-20580
chr1	203295315	203295526	E073	-20367
chr1	203295565	203295728	E073	-20165
chr1	203307632	203308073	E073	-7820
chr1	203308074	203308191	E073	-7702
chr1	203311253	203311484	E073	-4409
chr1	203311506	203312080	E073	-3813
chr1	203328427	203328521	E073	12534
chr1	203329817	203330224	E073	13924
chr1	203331091	203331568	E073	15198
chr1	203336296	203336499	E073	20403
chr1	203336577	203336666	E073	20684
chr1	203336687	203336737	E073	20794
chr1	203336819	203336892	E073	20926
chr1	203347712	203348297	E073	31819
chr1	203348419	203348794	E073	32526
chr1	203348823	203349006	E073	32930
chr1	203349016	203349257	E073	33123
chr1	203349798	203350102	E073	33905
chr1	203289549	203290773	E074	-25120
chr1	203290990	203291040	E074	-24853
chr1	203291068	203291178	E074	-24715
chr1	203291311	203291729	E074	-24164
chr1	203291757	203292368	E074	-23525
chr1	203292380	203292547	E074	-23346
chr1	203292553	203292734	E074	-23159
chr1	203292748	203295313	E074	-20580
chr1	203295315	203295526	E074	-20367
chr1	203295565	203295728	E074	-20165
chr1	203307632	203308073	E074	-7820
chr1	203308074	203308191	E074	-7702
chr1	203308447	203308566	E074	-7327
chr1	203308668	203308827	E074	-7066
chr1	203309001	203309591	E074	-6302
chr1	203309745	203309811	E074	-6082
chr1	203309883	203309935	E074	-5958
chr1	203311253	203311484	E074	-4409
chr1	203311506	203312080	E074	-3813
chr1	203319270	203319360	E074	3377
chr1	203319399	203319578	E074	3506
chr1	203335687	203335956	E074	19794
chr1	203336296	203336499	E074	20403
chr1	203336577	203336666	E074	20684
chr1	203336687	203336737	E074	20794
chr1	203336819	203336892	E074	20926
chr1	203276658	203280005	E081	-35888
chr1	203289325	203289510	E081	-26383
chr1	203289549	203290773	E081	-25120
chr1	203290990	203291040	E081	-24853
chr1	203292748	203295313	E081	-20580
chr1	203295315	203295526	E081	-20367
chr1	203295565	203295728	E081	-20165
chr1	203309001	203309591	E081	-6302
chr1	203309745	203309811	E081	-6082
chr1	203309883	203309935	E081	-5958
chr1	203310082	203310132	E081	-5761
chr1	203310717	203310767	E081	-5126
chr1	203311506	203312080	E081	-3813
chr1	203312124	203312228	E081	-3665
chr1	203329817	203330224	E081	13924
chr1	203331091	203331568	E081	15198
chr1	203333343	203334303	E081	17450
chr1	203347712	203348297	E081	31819
chr1	203348419	203348794	E081	32526
chr1	203348823	203349006	E081	32930
chr1	203349016	203349257	E081	33123
chr1	203266062	203266123	E082	-49770
chr1	203266168	203266258	E082	-49635
chr1	203266313	203266402	E082	-49491
chr1	203292748	203295313	E082	-20580
chr1	203295315	203295526	E082	-20367
chr1	203295565	203295728	E082	-20165
chr1	203299413	203299513	E082	-16380
chr1	203308668	203308827	E082	-7066
chr1	203309001	203309591	E082	-6302
chr1	203311253	203311484	E082	-4409
chr1	203311506	203312080	E082	-3813
chr1	203328427	203328521	E082	12534
chr1	203329817	203330224	E082	13924
chr1	203331091	203331568	E082	15198
chr1	203333343	203334303	E082	17450

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	203273554	203276656	E067	-39237
chr1	203273554	203276656	E068	-39237
chr1	203273554	203276656	E069	-39237
chr1	203273554	203276656	E070	-39237
chr1	203273554	203276656	E071	-39237
chr1	203273554	203276656	E072	-39237
chr1	203273554	203276656	E073	-39237
chr1	203273554	203276656	E074	-39237
chr1	203273554	203276656	E082	-39237