rs7026417

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

NTRK2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0105 (3163/29966,GnomAD)
C=0096 (2803/29118,TOPMED)
C=0140 (702/5008,1000G)
C=0097 (374/3854,ALSPAC)
C=0108 (402/3708,TWINSUK)

Position: chr9:84974250 (GRCh38.p7) (9q21.33)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 392 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 9	NC_000009.12:g.84974250T>C
GRCh37.p13 chr 9	NC_000009.11:g.87589165T>C
NTRK2 RefSeqGene	NG_012201.2:g.310700T>C

Gene: NTRK2, neurotrophic receptor tyrosine kinase 2(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NTRK2 transcript variant c	NM_001018064.2:c.	N/A	Intron Variant
NTRK2 transcript variant a	NM_006180.4:c.	N/A	Intron Variant
NTRK2 transcript variant b	NM_001007097.2:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant d	NM_001018065.2:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant e	NM_001018066.2:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant f	NM_001291937.1:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X1	XM_005252001.2:c.	N/A	Intron Variant
NTRK2 transcript variant X2	XM_005252003.2:c.	N/A	Intron Variant
NTRK2 transcript variant X3	XM_005252004.2:c.	N/A	Intron Variant
NTRK2 transcript variant X5	XM_011518718.2:c.	N/A	Intron Variant
NTRK2 transcript variant X3	XM_017014751.1:c.	N/A	Intron Variant
NTRK2 transcript variant X6	XM_017014752.1:c.	N/A	Intron Variant
NTRK2 transcript variant X7	XM_017014753.1:c.	N/A	Intron Variant
NTRK2 transcript variant X8	XM_017014754.1:c.	N/A	Intron Variant
NTRK2 transcript variant X9	XM_005252006.3:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X14	XM_005252007.3:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X12	XM_011518720.2:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X10	XM_017014755.1:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X11	XM_017014756.1:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X13	XM_017014757.1:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X15	XM_017014758.1:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X16	XM_017014759.1:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X17	XM_017014760.1:c.	N/A	Genic Downstream Transcript Variant
NTRK2 transcript variant X18	XM_017014761.1:c.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.929	C=0.071
1000Genomes	American	Sub	694	T=0.920	C=0.080
1000Genomes	East Asian	Sub	1008	T=0.629	C=0.371
1000Genomes	Europe	Sub	1006	T=0.902	C=0.098
1000Genomes	Global	Study-wide	5008	T=0.860	C=0.140
1000Genomes	South Asian	Sub	978	T=0.920	C=0.080
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.903	C=0.097
The Genome Aggregation Database	African	Sub	8728	T=0.921	C=0.079
The Genome Aggregation Database	American	Sub	836	T=0.900	C=0.100
The Genome Aggregation Database	East Asian	Sub	1610	T=0.630	C=0.370
The Genome Aggregation Database	Europe	Sub	18490	T=0.903	C=0.096
The Genome Aggregation Database	Global	Study-wide	29966	T=0.894	C=0.105
The Genome Aggregation Database	Other	Sub	302	T=0.960	C=0.040
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.903	C=0.096
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.892	C=0.108

PMID	Title	Author	Journal
23953852	Genome-wide association studies of maximum number of drinks.	Pan Y	J Psychiatr Res

P-Value

SNP ID	p-value	Traits	Study
rs7026417	9.83E-05	alcohol consumption	23953852

eQTL of rs7026417 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 rs7026417 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 )
chr9	87547828	87548395	E067	-40770
chr9	87551689	87552489	E067	-36676
chr9	87552514	87552626	E067	-36539
chr9	87552670	87552764	E067	-36401
chr9	87561035	87561583	E067	-27582
chr9	87562168	87562930	E067	-26235
chr9	87564989	87565104	E067	-24061
chr9	87565150	87565375	E067	-23790
chr9	87568251	87569519	E067	-19646
chr9	87600550	87600604	E067	11385
chr9	87603112	87603182	E067	13947
chr9	87603186	87603306	E067	14021
chr9	87603660	87603710	E067	14495
chr9	87603715	87604011	E067	14550
chr9	87604610	87604683	E067	15445
chr9	87604934	87606078	E067	15769
chr9	87606548	87606721	E067	17383
chr9	87607456	87607590	E067	18291
chr9	87607961	87608434	E067	18796
chr9	87608470	87608522	E067	19305
chr9	87609363	87609407	E067	20198
chr9	87609476	87609625	E067	20311
chr9	87609699	87609879	E067	20534
chr9	87610081	87610508	E067	20916
chr9	87610666	87610716	E067	21501
chr9	87610804	87611538	E067	21639
chr9	87612442	87612663	E067	23277
chr9	87612715	87612799	E067	23550
chr9	87612848	87612931	E067	23683
chr9	87620594	87620634	E067	31429
chr9	87624257	87624318	E067	35092
chr9	87624346	87624409	E067	35181
chr9	87630411	87630550	E067	41246
chr9	87630586	87630626	E067	41421
chr9	87631115	87631289	E067	41950
chr9	87631345	87631771	E067	42180
chr9	87631774	87632088	E067	42609
chr9	87633344	87633398	E067	44179
chr9	87633554	87633742	E067	44389
chr9	87633946	87634006	E067	44781
chr9	87637322	87637372	E067	48157
chr9	87637640	87637736	E067	48475
chr9	87637784	87637854	E067	48619
chr9	87637879	87637929	E067	48714
chr9	87545185	87545235	E068	-43930
chr9	87547828	87548395	E068	-40770
chr9	87551316	87551360	E068	-37805
chr9	87551689	87552489	E068	-36676
chr9	87552514	87552626	E068	-36539
chr9	87561666	87561906	E068	-27259
chr9	87562168	87562930	E068	-26235
chr9	87564989	87565104	E068	-24061
chr9	87565150	87565375	E068	-23790
chr9	87565604	87565666	E068	-23499
chr9	87565867	87566137	E068	-23028
chr9	87566166	87566230	E068	-22935
chr9	87566382	87566554	E068	-22611
chr9	87568251	87569519	E068	-19646
chr9	87585933	87586050	E068	-3115
chr9	87586281	87586331	E068	-2834
chr9	87589786	87590069	E068	621
chr9	87590132	87590264	E068	967
chr9	87600550	87600604	E068	11385
chr9	87603112	87603182	E068	13947
chr9	87603186	87603306	E068	14021
chr9	87603660	87603710	E068	14495
chr9	87603715	87604011	E068	14550
chr9	87604610	87604683	E068	15445
chr9	87604934	87606078	E068	15769
chr9	87607456	87607590	E068	18291
chr9	87610081	87610508	E068	20916
chr9	87610666	87610716	E068	21501
chr9	87610804	87611538	E068	21639
chr9	87612442	87612663	E068	23277
chr9	87612715	87612799	E068	23550
chr9	87612848	87612931	E068	23683
chr9	87613457	87613547	E068	24292
chr9	87630411	87630550	E068	41246
chr9	87630586	87630626	E068	41421
chr9	87631115	87631289	E068	41950
chr9	87631345	87631771	E068	42180
chr9	87631774	87632088	E068	42609
chr9	87633344	87633398	E068	44179
chr9	87633554	87633742	E068	44389
chr9	87637322	87637372	E068	48157
chr9	87637640	87637736	E068	48475
chr9	87637784	87637854	E068	48619
chr9	87548532	87548623	E069	-40542
chr9	87551689	87552489	E069	-36676
chr9	87552514	87552626	E069	-36539
chr9	87552670	87552764	E069	-36401
chr9	87558269	87559136	E069	-30029
chr9	87559414	87559487	E069	-29678
chr9	87559982	87560379	E069	-28786
chr9	87560411	87560516	E069	-28649
chr9	87560645	87560774	E069	-28391
chr9	87562168	87562930	E069	-26235
chr9	87564989	87565104	E069	-24061
chr9	87565150	87565375	E069	-23790
chr9	87568251	87569519	E069	-19646
chr9	87585421	87585678	E069	-3487
chr9	87586462	87586729	E069	-2436
chr9	87587093	87587338	E069	-1827
chr9	87587908	87588135	E069	-1030
chr9	87590776	87590826	E069	1611
chr9	87590959	87591127	E069	1794
chr9	87594070	87594158	E069	4905
chr9	87603660	87603710	E069	14495
chr9	87603715	87604011	E069	14550
chr9	87604610	87604683	E069	15445
chr9	87604934	87606078	E069	15769
chr9	87606217	87606319	E069	17052
chr9	87606548	87606721	E069	17383
chr9	87606805	87606855	E069	17640
chr9	87607456	87607590	E069	18291
chr9	87607961	87608434	E069	18796
chr9	87609363	87609407	E069	20198
chr9	87609476	87609625	E069	20311
chr9	87609699	87609879	E069	20534
chr9	87610081	87610508	E069	20916
chr9	87610666	87610716	E069	21501
chr9	87610804	87611538	E069	21639
chr9	87613457	87613547	E069	24292
chr9	87619843	87619902	E069	30678
chr9	87619911	87620033	E069	30746
chr9	87620138	87620198	E069	30973
chr9	87630411	87630550	E069	41246
chr9	87630586	87630626	E069	41421
chr9	87631774	87632088	E069	42609
chr9	87633344	87633398	E069	44179
chr9	87633554	87633742	E069	44389
chr9	87633946	87634006	E069	44781
chr9	87634200	87634350	E069	45035
chr9	87634562	87634868	E069	45397
chr9	87637322	87637372	E069	48157
chr9	87637640	87637736	E069	48475
chr9	87637784	87637854	E069	48619
chr9	87637879	87637929	E069	48714
chr9	87539211	87539700	E070	-49465
chr9	87539741	87539941	E070	-49224
chr9	87540187	87540284	E070	-48881
chr9	87551689	87552489	E070	-36676
chr9	87552514	87552626	E070	-36539
chr9	87552670	87552764	E070	-36401
chr9	87562168	87562930	E070	-26235
chr9	87564989	87565104	E070	-24061
chr9	87565150	87565375	E070	-23790
chr9	87568251	87569519	E070	-19646
chr9	87590776	87590826	E070	1611
chr9	87604934	87606078	E070	15769
chr9	87606217	87606319	E070	17052
chr9	87606548	87606721	E070	17383
chr9	87606805	87606855	E070	17640
chr9	87607456	87607590	E070	18291
chr9	87607961	87608434	E070	18796
chr9	87551316	87551360	E071	-37805
chr9	87551689	87552489	E071	-36676
chr9	87552514	87552626	E071	-36539
chr9	87552670	87552764	E071	-36401
chr9	87562168	87562930	E071	-26235
chr9	87568251	87569519	E071	-19646
chr9	87600550	87600604	E071	11385
chr9	87603660	87603710	E071	14495
chr9	87603715	87604011	E071	14550
chr9	87604610	87604683	E071	15445
chr9	87604934	87606078	E071	15769
chr9	87606217	87606319	E071	17052
chr9	87606548	87606721	E071	17383
chr9	87606805	87606855	E071	17640
chr9	87607456	87607590	E071	18291
chr9	87607961	87608434	E071	18796
chr9	87608470	87608522	E071	19305
chr9	87609363	87609407	E071	20198
chr9	87609476	87609625	E071	20311
chr9	87609699	87609879	E071	20534
chr9	87610081	87610508	E071	20916
chr9	87610666	87610716	E071	21501
chr9	87610804	87611538	E071	21639
chr9	87612442	87612663	E071	23277
chr9	87612715	87612799	E071	23550
chr9	87612848	87612931	E071	23683
chr9	87613457	87613547	E071	24292
chr9	87619077	87619160	E071	29912
chr9	87619843	87619902	E071	30678
chr9	87619911	87620033	E071	30746
chr9	87620138	87620198	E071	30973
chr9	87630411	87630550	E071	41246
chr9	87630586	87630626	E071	41421
chr9	87631774	87632088	E071	42609
chr9	87633344	87633398	E071	44179
chr9	87633554	87633742	E071	44389
chr9	87633946	87634006	E071	44781
chr9	87634200	87634350	E071	45035
chr9	87634562	87634868	E071	45397
chr9	87636365	87636445	E071	47200
chr9	87636468	87636560	E071	47303
chr9	87636601	87637179	E071	47436
chr9	87637322	87637372	E071	48157
chr9	87637640	87637736	E071	48475
chr9	87637784	87637854	E071	48619
chr9	87637879	87637929	E071	48714
chr9	87547828	87548395	E072	-40770
chr9	87551689	87552489	E072	-36676
chr9	87552514	87552626	E072	-36539
chr9	87552670	87552764	E072	-36401
chr9	87559414	87559487	E072	-29678
chr9	87559982	87560379	E072	-28786
chr9	87560411	87560516	E072	-28649
chr9	87560645	87560774	E072	-28391
chr9	87560865	87560990	E072	-28175
chr9	87561035	87561583	E072	-27582
chr9	87561666	87561906	E072	-27259
chr9	87562168	87562930	E072	-26235
chr9	87564989	87565104	E072	-24061
chr9	87565150	87565375	E072	-23790
chr9	87582041	87582641	E072	-6524
chr9	87585933	87586050	E072	-3115
chr9	87586281	87586331	E072	-2834
chr9	87586462	87586729	E072	-2436
chr9	87587093	87587338	E072	-1827
chr9	87603112	87603182	E072	13947
chr9	87603186	87603306	E072	14021
chr9	87603660	87603710	E072	14495
chr9	87603715	87604011	E072	14550
chr9	87604934	87606078	E072	15769
chr9	87607456	87607590	E072	18291
chr9	87607961	87608434	E072	18796
chr9	87610804	87611538	E072	21639
chr9	87612442	87612663	E072	23277
chr9	87612715	87612799	E072	23550
chr9	87612848	87612931	E072	23683
chr9	87619843	87619902	E072	30678
chr9	87619911	87620033	E072	30746
chr9	87620138	87620198	E072	30973
chr9	87630411	87630550	E072	41246
chr9	87630586	87630626	E072	41421
chr9	87631115	87631289	E072	41950
chr9	87631345	87631771	E072	42180
chr9	87631774	87632088	E072	42609
chr9	87633344	87633398	E072	44179
chr9	87633554	87633742	E072	44389
chr9	87636365	87636445	E072	47200
chr9	87636468	87636560	E072	47303
chr9	87637322	87637372	E072	48157
chr9	87637640	87637736	E072	48475
chr9	87637784	87637854	E072	48619
chr9	87637879	87637929	E072	48714
chr9	87547530	87547570	E073	-41595
chr9	87547664	87547704	E073	-41461
chr9	87547828	87548395	E073	-40770
chr9	87551689	87552489	E073	-36676
chr9	87552514	87552626	E073	-36539
chr9	87552670	87552764	E073	-36401
chr9	87552848	87552919	E073	-36246
chr9	87552959	87553096	E073	-36069
chr9	87559982	87560379	E073	-28786
chr9	87560411	87560516	E073	-28649
chr9	87560645	87560774	E073	-28391
chr9	87560865	87560990	E073	-28175
chr9	87561035	87561583	E073	-27582
chr9	87561666	87561906	E073	-27259
chr9	87562168	87562930	E073	-26235
chr9	87564989	87565104	E073	-24061
chr9	87568251	87569519	E073	-19646
chr9	87582041	87582641	E073	-6524
chr9	87583492	87583614	E073	-5551
chr9	87583954	87584431	E073	-4734
chr9	87585421	87585678	E073	-3487
chr9	87585933	87586050	E073	-3115
chr9	87586281	87586331	E073	-2834
chr9	87586462	87586729	E073	-2436
chr9	87587093	87587338	E073	-1827
chr9	87589786	87590069	E073	621
chr9	87590132	87590264	E073	967
chr9	87590959	87591127	E073	1794
chr9	87600550	87600604	E073	11385
chr9	87603660	87603710	E073	14495
chr9	87603715	87604011	E073	14550
chr9	87604610	87604683	E073	15445
chr9	87604934	87606078	E073	15769
chr9	87606217	87606319	E073	17052
chr9	87606805	87606855	E073	17640
chr9	87607456	87607590	E073	18291
chr9	87607961	87608434	E073	18796
chr9	87608470	87608522	E073	19305
chr9	87609363	87609407	E073	20198
chr9	87609476	87609625	E073	20311
chr9	87609699	87609879	E073	20534
chr9	87610081	87610508	E073	20916
chr9	87610666	87610716	E073	21501
chr9	87610804	87611538	E073	21639
chr9	87612442	87612663	E073	23277
chr9	87612715	87612799	E073	23550
chr9	87612848	87612931	E073	23683
chr9	87613457	87613547	E073	24292
chr9	87619843	87619902	E073	30678
chr9	87619911	87620033	E073	30746
chr9	87620138	87620198	E073	30973
chr9	87630586	87630626	E073	41421
chr9	87631115	87631289	E073	41950
chr9	87631345	87631771	E073	42180
chr9	87636365	87636445	E073	47200
chr9	87636468	87636560	E073	47303
chr9	87547828	87548395	E074	-40770
chr9	87548532	87548623	E074	-40542
chr9	87551689	87552489	E074	-36676
chr9	87552514	87552626	E074	-36539
chr9	87552670	87552764	E074	-36401
chr9	87552848	87552919	E074	-36246
chr9	87552959	87553096	E074	-36069
chr9	87560865	87560990	E074	-28175
chr9	87561035	87561583	E074	-27582
chr9	87562168	87562930	E074	-26235
chr9	87564989	87565104	E074	-24061
chr9	87565150	87565375	E074	-23790
chr9	87568251	87569519	E074	-19646
chr9	87586281	87586331	E074	-2834
chr9	87586462	87586729	E074	-2436
chr9	87590776	87590826	E074	1611
chr9	87590959	87591127	E074	1794
chr9	87600550	87600604	E074	11385
chr9	87603660	87603710	E074	14495
chr9	87603715	87604011	E074	14550
chr9	87604610	87604683	E074	15445
chr9	87604934	87606078	E074	15769
chr9	87606217	87606319	E074	17052
chr9	87606548	87606721	E074	17383
chr9	87606805	87606855	E074	17640
chr9	87607456	87607590	E074	18291
chr9	87609476	87609625	E074	20311
chr9	87609699	87609879	E074	20534
chr9	87610081	87610508	E074	20916
chr9	87610666	87610716	E074	21501
chr9	87610804	87611538	E074	21639
chr9	87612442	87612663	E074	23277
chr9	87612715	87612799	E074	23550
chr9	87612848	87612931	E074	23683
chr9	87620138	87620198	E074	30973
chr9	87630411	87630550	E074	41246
chr9	87630586	87630626	E074	41421
chr9	87631115	87631289	E074	41950
chr9	87631345	87631771	E074	42180
chr9	87631774	87632088	E074	42609
chr9	87633344	87633398	E074	44179
chr9	87633554	87633742	E074	44389
chr9	87637640	87637736	E074	48475
chr9	87637784	87637854	E074	48619
chr9	87637879	87637929	E074	48714
chr9	87539211	87539700	E081	-49465
chr9	87539741	87539941	E081	-49224
chr9	87540187	87540284	E081	-48881
chr9	87551689	87552489	E081	-36676
chr9	87552514	87552626	E081	-36539
chr9	87552670	87552764	E081	-36401
chr9	87552848	87552919	E081	-36246
chr9	87552959	87553096	E081	-36069
chr9	87556606	87556656	E081	-32509
chr9	87556811	87556878	E081	-32287
chr9	87556918	87556979	E081	-32186
chr9	87557035	87557085	E081	-32080
chr9	87557181	87557344	E081	-31821
chr9	87559414	87559487	E081	-29678
chr9	87559982	87560379	E081	-28786
chr9	87560411	87560516	E081	-28649
chr9	87560645	87560774	E081	-28391
chr9	87560865	87560990	E081	-28175
chr9	87561035	87561583	E081	-27582
chr9	87561666	87561906	E081	-27259
chr9	87562168	87562930	E081	-26235
chr9	87568251	87569519	E081	-19646
chr9	87604934	87606078	E081	15769
chr9	87606217	87606319	E081	17052
chr9	87606548	87606721	E081	17383
chr9	87606805	87606855	E081	17640
chr9	87607456	87607590	E081	18291
chr9	87610804	87611538	E081	21639
chr9	87539211	87539700	E082	-49465
chr9	87539741	87539941	E082	-49224
chr9	87540187	87540284	E082	-48881
chr9	87551689	87552489	E082	-36676
chr9	87552514	87552626	E082	-36539
chr9	87552670	87552764	E082	-36401
chr9	87552848	87552919	E082	-36246
chr9	87552959	87553096	E082	-36069
chr9	87556811	87556878	E082	-32287
chr9	87556918	87556979	E082	-32186
chr9	87557035	87557085	E082	-32080
chr9	87557181	87557344	E082	-31821
chr9	87568251	87569519	E082	-19646
chr9	87604934	87606078	E082	15769
chr9	87606217	87606319	E082	17052
chr9	87606548	87606721	E082	17383