rs4509385

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

MSRA : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0422 (12626/29876,GnomAD)
A==0426 (12421/29118,TOPMED)
A==0495 (2477/5008,1000G)
A==0449 (1732/3854,ALSPAC)
A==0451 (1671/3708,TWINSUK)

Position: chr8:10322686 (GRCh38.p7) (8p23.1)

Phenotype: ND

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 382 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 8	NC_000008.11:g.10322686A>G
GRCh37.p13 chr 8	NC_000008.10:g.10180196A>G

Gene: MSRA, methionine sulfoxide reductase A(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MSRA transcript variant 2	NM_001135670.2:c.	N/A	Intron Variant
MSRA transcript variant 3	NM_001135671.2:c.	N/A	Intron Variant
MSRA transcript variant 4	NM_001199729.2:c.	N/A	Intron Variant
MSRA transcript variant 1	NM_012331.4:c.	N/A	Intron Variant
MSRA transcript variant X1	XM_011543822.1:c.	N/A	Intron Variant
MSRA transcript variant X2	XM_011543823.2:c.	N/A	Intron Variant
MSRA transcript variant X3	XM_017013448.1:c.	N/A	Intron Variant
MSRA transcript variant X4	XM_017013449.1:c.	N/A	Intron Variant
MSRA transcript variant X5	XM_017013450.1:c.	N/A	Intron Variant
MSRA transcript variant X6	XM_017013451.1:c.	N/A	Intron Variant
MSRA transcript variant X7	XM_017013452.1:c.	N/A	Intron Variant
MSRA transcript variant X8	XM_017013453.1:c.	N/A	Intron Variant
MSRA transcript variant X9	XM_017013454.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.388	G=0.612
1000Genomes	American	Sub	694	A=0.570	G=0.430
1000Genomes	East Asian	Sub	1008	A=0.609	G=0.391
1000Genomes	Europe	Sub	1006	A=0.453	G=0.547
1000Genomes	Global	Study-wide	5008	A=0.495	G=0.505
1000Genomes	South Asian	Sub	978	A=0.510	G=0.490
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.449	G=0.551
The Genome Aggregation Database	African	Sub	8702	A=0.379	G=0.621
The Genome Aggregation Database	American	Sub	838	A=0.610	G=0.390
The Genome Aggregation Database	East Asian	Sub	1614	A=0.594	G=0.406
The Genome Aggregation Database	Europe	Sub	18420	A=0.418	G=0.581
The Genome Aggregation Database	Global	Study-wide	29876	A=0.422	G=0.577
The Genome Aggregation Database	Other	Sub	302	A=0.510	G=0.490
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.426	G=0.573
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.451	G=0.549

PMID	Title	Author	Journal
19268276	Genome-wide association study of smoking initiation and current smoking.	Vink JM	Am J Hum Genet
22719919	Glutamate and synaptic plasticity systems and smoking behavior: results from a genetic association study.	dos Santos VA	PLoS One

P-Value

SNP ID	p-value	Traits	Study
rs4509385	8.01E-05	nicotine smoking	19268276

eQTL of rs4509385 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 rs4509385 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 )
chr8	10160311	10160379	E067	-19817
chr8	10160453	10160694	E067	-19502
chr8	10166182	10166232	E067	-13964
chr8	10166535	10166585	E067	-13611
chr8	10166799	10167112	E067	-13084
chr8	10167123	10167323	E067	-12873
chr8	10167508	10167814	E067	-12382
chr8	10168251	10168301	E067	-11895
chr8	10168585	10168678	E067	-11518
chr8	10168940	10168990	E067	-11206
chr8	10183405	10183462	E067	3209
chr8	10183549	10183599	E067	3353
chr8	10183757	10183944	E067	3561
chr8	10188288	10188328	E067	8092
chr8	10188537	10188646	E067	8341
chr8	10188985	10189158	E067	8789
chr8	10189527	10189683	E067	9331
chr8	10189802	10189916	E067	9606
chr8	10189966	10190028	E067	9770
chr8	10190071	10193655	E067	9875
chr8	10195602	10195788	E067	15406
chr8	10196364	10196414	E067	16168
chr8	10196431	10196571	E067	16235
chr8	10220518	10221058	E067	40322
chr8	10229349	10229425	E067	49153
chr8	10188422	10188513	E068	8226
chr8	10188537	10188646	E068	8341
chr8	10188889	10188929	E068	8693
chr8	10188985	10189158	E068	8789
chr8	10189802	10189916	E068	9606
chr8	10189966	10190028	E068	9770
chr8	10190071	10193655	E068	9875
chr8	10218219	10218336	E068	38023
chr8	10218349	10218409	E068	38153
chr8	10218432	10218472	E068	38236
chr8	10223168	10223352	E068	42972
chr8	10223362	10224106	E068	43166
chr8	10227719	10228166	E068	47523
chr8	10229349	10229425	E068	49153
chr8	10229742	10230127	E068	49546
chr8	10166182	10166232	E069	-13964
chr8	10166535	10166585	E069	-13611
chr8	10166799	10167112	E069	-13084
chr8	10167123	10167323	E069	-12873
chr8	10167978	10168129	E069	-12067
chr8	10168251	10168301	E069	-11895
chr8	10168585	10168678	E069	-11518
chr8	10168940	10168990	E069	-11206
chr8	10183757	10183944	E069	3561
chr8	10188288	10188328	E069	8092
chr8	10188422	10188513	E069	8226
chr8	10188537	10188646	E069	8341
chr8	10188889	10188929	E069	8693
chr8	10188985	10189158	E069	8789
chr8	10189802	10189916	E069	9606
chr8	10189966	10190028	E069	9770
chr8	10190071	10193655	E069	9875
chr8	10220235	10220481	E069	40039
chr8	10220518	10221058	E069	40322
chr8	10223168	10223352	E069	42972
chr8	10223362	10224106	E069	43166
chr8	10224218	10224258	E069	44022
chr8	10226477	10226557	E069	46281
chr8	10229349	10229425	E069	49153
chr8	10132772	10132822	E070	-47374
chr8	10133023	10133399	E070	-46797
chr8	10133500	10133584	E070	-46612
chr8	10134869	10134919	E070	-45277
chr8	10135804	10135864	E070	-44332
chr8	10136148	10136198	E070	-43998
chr8	10138615	10138665	E070	-41531
chr8	10139179	10139236	E070	-40960
chr8	10139307	10139393	E070	-40803
chr8	10139457	10139521	E070	-40675
chr8	10139902	10140017	E070	-40179
chr8	10150753	10151216	E070	-28980
chr8	10151336	10151404	E070	-28792
chr8	10152123	10152173	E070	-28023
chr8	10152182	10152232	E070	-27964
chr8	10152476	10152531	E070	-27665
chr8	10152555	10152684	E070	-27512
chr8	10152731	10152812	E070	-27384
chr8	10152911	10152961	E070	-27235
chr8	10153655	10153705	E070	-26491
chr8	10153802	10153856	E070	-26340
chr8	10154017	10154067	E070	-26129
chr8	10154082	10154195	E070	-26001
chr8	10154340	10154443	E070	-25753
chr8	10158330	10158664	E070	-21532
chr8	10159084	10159173	E070	-21023
chr8	10159228	10159401	E070	-20795
chr8	10159589	10159725	E070	-20471
chr8	10159817	10160065	E070	-20131
chr8	10160113	10160210	E070	-19986
chr8	10160311	10160379	E070	-19817
chr8	10160453	10160694	E070	-19502
chr8	10160711	10160761	E070	-19435
chr8	10165603	10165657	E070	-14539
chr8	10166182	10166232	E070	-13964
chr8	10166535	10166585	E070	-13611
chr8	10166799	10167112	E070	-13084
chr8	10167123	10167323	E070	-12873
chr8	10167508	10167814	E070	-12382
chr8	10167978	10168129	E070	-12067
chr8	10168251	10168301	E070	-11895
chr8	10168585	10168678	E070	-11518
chr8	10168940	10168990	E070	-11206
chr8	10170585	10170771	E070	-9425
chr8	10183405	10183462	E070	3209
chr8	10183549	10183599	E070	3353
chr8	10183757	10183944	E070	3561
chr8	10188889	10188929	E070	8693
chr8	10188985	10189158	E070	8789
chr8	10189527	10189683	E070	9331
chr8	10189802	10189916	E070	9606
chr8	10189966	10190028	E070	9770
chr8	10193785	10194206	E070	13589
chr8	10194263	10194687	E070	14067
chr8	10194991	10195197	E070	14795
chr8	10195226	10195378	E070	15030
chr8	10206220	10206293	E070	26024
chr8	10206339	10206581	E070	26143
chr8	10206820	10206889	E070	26624
chr8	10220235	10220481	E070	40039
chr8	10220518	10221058	E070	40322
chr8	10221792	10223144	E070	41596
chr8	10223168	10223352	E070	42972
chr8	10223362	10224106	E070	43166
chr8	10166182	10166232	E071	-13964
chr8	10166535	10166585	E071	-13611
chr8	10166799	10167112	E071	-13084
chr8	10167123	10167323	E071	-12873
chr8	10167508	10167814	E071	-12382
chr8	10167978	10168129	E071	-12067
chr8	10168251	10168301	E071	-11895
chr8	10188422	10188513	E071	8226
chr8	10188537	10188646	E071	8341
chr8	10188889	10188929	E071	8693
chr8	10188985	10189158	E071	8789
chr8	10189527	10189683	E071	9331
chr8	10189802	10189916	E071	9606
chr8	10189966	10190028	E071	9770
chr8	10190071	10193655	E071	9875
chr8	10196364	10196414	E071	16168
chr8	10196431	10196571	E071	16235
chr8	10196649	10196784	E071	16453
chr8	10223362	10224106	E071	43166
chr8	10225965	10226037	E071	45769
chr8	10226102	10226222	E071	45906
chr8	10226337	10226444	E071	46141
chr8	10226477	10226557	E071	46281
chr8	10229349	10229425	E071	49153
chr8	10229742	10230127	E071	49546
chr8	10166182	10166232	E072	-13964
chr8	10166535	10166585	E072	-13611
chr8	10167508	10167814	E072	-12382
chr8	10167978	10168129	E072	-12067
chr8	10168251	10168301	E072	-11895
chr8	10188537	10188646	E072	8341
chr8	10188889	10188929	E072	8693
chr8	10188985	10189158	E072	8789
chr8	10189527	10189683	E072	9331
chr8	10189802	10189916	E072	9606
chr8	10189966	10190028	E072	9770
chr8	10209589	10209717	E072	29393
chr8	10209807	10211099	E072	29611
chr8	10220235	10220481	E072	40039
chr8	10223362	10224106	E072	43166
chr8	10229349	10229425	E072	49153
chr8	10229742	10230127	E072	49546
chr8	10150605	10150691	E073	-29505
chr8	10150753	10151216	E073	-28980
chr8	10159817	10160065	E073	-20131
chr8	10160113	10160210	E073	-19986
chr8	10160311	10160379	E073	-19817
chr8	10160453	10160694	E073	-19502
chr8	10166535	10166585	E073	-13611
chr8	10166799	10167112	E073	-13084
chr8	10167123	10167323	E073	-12873
chr8	10183757	10183944	E073	3561
chr8	10184021	10184061	E073	3825
chr8	10188537	10188646	E073	8341
chr8	10188889	10188929	E073	8693
chr8	10188985	10189158	E073	8789
chr8	10189966	10190028	E073	9770
chr8	10190071	10193655	E073	9875
chr8	10193785	10194206	E073	13589
chr8	10218680	10218768	E073	38484
chr8	10223362	10224106	E073	43166
chr8	10224218	10224258	E073	44022
chr8	10225965	10226037	E073	45769
chr8	10226102	10226222	E073	45906
chr8	10226337	10226444	E073	46141
chr8	10226477	10226557	E073	46281
chr8	10229349	10229425	E073	49153
chr8	10229742	10230127	E073	49546
chr8	10152123	10152173	E074	-28023
chr8	10152182	10152232	E074	-27964
chr8	10152476	10152531	E074	-27665
chr8	10152555	10152684	E074	-27512
chr8	10152731	10152812	E074	-27384
chr8	10166182	10166232	E074	-13964
chr8	10166535	10166585	E074	-13611
chr8	10167508	10167814	E074	-12382
chr8	10167978	10168129	E074	-12067
chr8	10168251	10168301	E074	-11895
chr8	10189966	10190028	E074	9770
chr8	10190071	10193655	E074	9875
chr8	10195822	10195917	E074	15626
chr8	10196022	10196068	E074	15826
chr8	10196194	10196248	E074	15998
chr8	10196364	10196414	E074	16168
chr8	10196431	10196571	E074	16235
chr8	10196649	10196784	E074	16453
chr8	10196841	10197005	E074	16645
chr8	10131245	10131722	E081	-48474
chr8	10131873	10131930	E081	-48266
chr8	10133500	10133584	E081	-46612
chr8	10139179	10139236	E081	-40960
chr8	10139307	10139393	E081	-40803
chr8	10139457	10139521	E081	-40675
chr8	10149860	10149933	E081	-30263
chr8	10152182	10152232	E081	-27964
chr8	10152476	10152531	E081	-27665
chr8	10152555	10152684	E081	-27512
chr8	10152731	10152812	E081	-27384
chr8	10157541	10157674	E081	-22522
chr8	10158330	10158664	E081	-21532
chr8	10159084	10159173	E081	-21023
chr8	10159228	10159401	E081	-20795
chr8	10159589	10159725	E081	-20471
chr8	10159817	10160065	E081	-20131
chr8	10160113	10160210	E081	-19986
chr8	10160311	10160379	E081	-19817
chr8	10160453	10160694	E081	-19502
chr8	10160711	10160761	E081	-19435
chr8	10166182	10166232	E081	-13964
chr8	10166535	10166585	E081	-13611
chr8	10166799	10167112	E081	-13084
chr8	10167123	10167323	E081	-12873
chr8	10167508	10167814	E081	-12382
chr8	10167978	10168129	E081	-12067
chr8	10168251	10168301	E081	-11895
chr8	10168585	10168678	E081	-11518
chr8	10168940	10168990	E081	-11206
chr8	10171787	10172734	E081	-7462
chr8	10182463	10182514	E081	2267
chr8	10182641	10182691	E081	2445
chr8	10187168	10187218	E081	6972
chr8	10187501	10187600	E081	7305
chr8	10188288	10188328	E081	8092
chr8	10188422	10188513	E081	8226
chr8	10188537	10188646	E081	8341
chr8	10188889	10188929	E081	8693
chr8	10188985	10189158	E081	8789
chr8	10189527	10189683	E081	9331
chr8	10189802	10189916	E081	9606
chr8	10189966	10190028	E081	9770
chr8	10190071	10193655	E081	9875
chr8	10193785	10194206	E081	13589
chr8	10194263	10194687	E081	14067
chr8	10194991	10195197	E081	14795
chr8	10195226	10195378	E081	15030
chr8	10195602	10195788	E081	15406
chr8	10195822	10195917	E081	15626
chr8	10196022	10196068	E081	15826
chr8	10196194	10196248	E081	15998
chr8	10196364	10196414	E081	16168
chr8	10196431	10196571	E081	16235
chr8	10196649	10196784	E081	16453
chr8	10196841	10197005	E081	16645
chr8	10197575	10197739	E081	17379
chr8	10200230	10200444	E081	20034
chr8	10200629	10200949	E081	20433
chr8	10200967	10201228	E081	20771
chr8	10206220	10206293	E081	26024
chr8	10206339	10206581	E081	26143
chr8	10206820	10206889	E081	26624
chr8	10206958	10207013	E081	26762
chr8	10207021	10207075	E081	26825
chr8	10207101	10207181	E081	26905
chr8	10207367	10207666	E081	27171
chr8	10207815	10207925	E081	27619
chr8	10207958	10208702	E081	27762
chr8	10209096	10209329	E081	28900
chr8	10209589	10209717	E081	29393
chr8	10209807	10211099	E081	29611
chr8	10211611	10211709	E081	31415
chr8	10211768	10211818	E081	31572
chr8	10211823	10211873	E081	31627
chr8	10212358	10212485	E081	32162
chr8	10212933	10213021	E081	32737
chr8	10213564	10213627	E081	33368
chr8	10215635	10215685	E081	35439
chr8	10215705	10215755	E081	35509
chr8	10217559	10217678	E081	37363
chr8	10218219	10218336	E081	38023
chr8	10218349	10218409	E081	38153
chr8	10218432	10218472	E081	38236
chr8	10218680	10218768	E081	38484
chr8	10219124	10219174	E081	38928
chr8	10219567	10219645	E081	39371
chr8	10220235	10220481	E081	40039
chr8	10220518	10221058	E081	40322
chr8	10221572	10221622	E081	41376
chr8	10221792	10223144	E081	41596
chr8	10223168	10223352	E081	42972
chr8	10223362	10224106	E081	43166
chr8	10224218	10224258	E081	44022
chr8	10224619	10224712	E081	44423
chr8	10224935	10224988	E081	44739
chr8	10225400	10225454	E081	45204
chr8	10225570	10225683	E081	45374
chr8	10225766	10225828	E081	45570
chr8	10225965	10226037	E081	45769
chr8	10226102	10226222	E081	45906
chr8	10226337	10226444	E081	46141
chr8	10229742	10230127	E081	49546
chr8	10138615	10138665	E082	-41531
chr8	10139179	10139236	E082	-40960
chr8	10139307	10139393	E082	-40803
chr8	10152123	10152173	E082	-28023
chr8	10152182	10152232	E082	-27964
chr8	10158330	10158664	E082	-21532
chr8	10159084	10159173	E082	-21023
chr8	10159228	10159401	E082	-20795
chr8	10159589	10159725	E082	-20471
chr8	10159817	10160065	E082	-20131
chr8	10160113	10160210	E082	-19986
chr8	10170585	10170771	E082	-9425
chr8	10171130	10171180	E082	-9016
chr8	10188288	10188328	E082	8092
chr8	10188422	10188513	E082	8226
chr8	10188537	10188646	E082	8341
chr8	10188889	10188929	E082	8693
chr8	10188985	10189158	E082	8789
chr8	10189527	10189683	E082	9331
chr8	10189802	10189916	E082	9606
chr8	10189966	10190028	E082	9770
chr8	10193785	10194206	E082	13589
chr8	10194263	10194687	E082	14067
chr8	10194991	10195197	E082	14795
chr8	10195226	10195378	E082	15030
chr8	10195602	10195788	E082	15406
chr8	10195822	10195917	E082	15626
chr8	10196022	10196068	E082	15826
chr8	10196194	10196248	E082	15998
chr8	10196364	10196414	E082	16168
chr8	10196431	10196571	E082	16235
chr8	10197575	10197739	E082	17379
chr8	10200089	10200217	E082	19893
chr8	10200230	10200444	E082	20034
chr8	10200629	10200949	E082	20433
chr8	10200967	10201228	E082	20771
chr8	10201470	10201606	E082	21274
chr8	10206339	10206581	E082	26143
chr8	10206820	10206889	E082	26624
chr8	10206958	10207013	E082	26762
chr8	10207021	10207075	E082	26825
chr8	10207101	10207181	E082	26905
chr8	10207367	10207666	E082	27171
chr8	10207815	10207925	E082	27619
chr8	10207958	10208702	E082	27762
chr8	10209096	10209329	E082	28900
chr8	10209589	10209717	E082	29393
chr8	10217559	10217678	E082	37363
chr8	10218219	10218336	E082	38023
chr8	10218349	10218409	E082	38153
chr8	10218432	10218472	E082	38236
chr8	10218680	10218768	E082	38484
chr8	10220235	10220481	E082	40039
chr8	10220518	10221058	E082	40322
chr8	10221572	10221622	E082	41376
chr8	10221792	10223144	E082	41596
chr8	10223362	10224106	E082	43166
chr8	10224218	10224258	E082	44022
chr8	10224619	10224712	E082	44423
chr8	10224935	10224988	E082	44739
chr8	10225400	10225454	E082	45204
chr8	10225570	10225683	E082	45374
chr8	10225766	10225828	E082	45570
chr8	10225965	10226037	E082	45769