rs2190498

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

GRB10 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0054 (1639/29970,GnomAD)
G=0081 (2383/29118,TOPMED)
G=0054 (269/5008,1000G)
G=0016 (63/3854,ALSPAC)
G=0016 (58/3708,TWINSUK)

Position: chr7:50621817 (GRCh38.p7) (7p12.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 253 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.50621817A>G
GRCh37.p13 chr 7	NC_000007.13:g.50689514A>G
GRB10 RefSeqGene	NG_012305.1:g.176646T>C

Gene: GRB10, growth factor receptor bound protein 10(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GRB10 transcript variant 2	NM_001001549.2:c.	N/A	Intron Variant
GRB10 transcript variant 3	NM_001001550.2:c.	N/A	Intron Variant
GRB10 transcript variant 4	NM_001001555.2:c.	N/A	Intron Variant
GRB10 transcript variant 1	NM_005311.4:c.	N/A	Intron Variant
GRB10 transcript variant X19	XM_011515304.1:c.	N/A	Intron Variant
GRB10 transcript variant X20	XM_011515312.2:c.	N/A	Intron Variant
GRB10 transcript variant X35	XM_011515316.1:c.	N/A	Intron Variant
GRB10 transcript variant X44	XM_011515323.2:c.	N/A	Intron Variant
GRB10 transcript variant X1	XM_017012029.1:c.	N/A	Intron Variant
GRB10 transcript variant X2	XM_017012030.1:c.	N/A	Intron Variant
GRB10 transcript variant X3	XM_017012031.1:c.	N/A	Intron Variant
GRB10 transcript variant X5	XM_017012032.1:c.	N/A	Intron Variant
GRB10 transcript variant X6	XM_017012033.1:c.	N/A	Intron Variant
GRB10 transcript variant X7	XM_017012034.1:c.	N/A	Intron Variant
GRB10 transcript variant X7	XM_017012035.1:c.	N/A	Intron Variant
GRB10 transcript variant X8	XM_017012036.1:c.	N/A	Intron Variant
GRB10 transcript variant X9	XM_017012037.1:c.	N/A	Intron Variant
GRB10 transcript variant X10	XM_017012038.1:c.	N/A	Intron Variant
GRB10 transcript variant X11	XM_017012039.1:c.	N/A	Intron Variant
GRB10 transcript variant X12	XM_017012040.1:c.	N/A	Intron Variant
GRB10 transcript variant X13	XM_017012041.1:c.	N/A	Intron Variant
GRB10 transcript variant X14	XM_017012042.1:c.	N/A	Intron Variant
GRB10 transcript variant X14	XM_017012043.1:c.	N/A	Intron Variant
GRB10 transcript variant X16	XM_017012044.1:c.	N/A	Intron Variant
GRB10 transcript variant X15	XM_017012045.1:c.	N/A	Intron Variant
GRB10 transcript variant X18	XM_017012046.1:c.	N/A	Intron Variant
GRB10 transcript variant X21	XM_017012047.1:c.	N/A	Intron Variant
GRB10 transcript variant X22	XM_017012048.1:c.	N/A	Intron Variant
GRB10 transcript variant X23	XM_017012049.1:c.	N/A	Intron Variant
GRB10 transcript variant X24	XM_017012050.1:c.	N/A	Intron Variant
GRB10 transcript variant X25	XM_017012051.1:c.	N/A	Intron Variant
GRB10 transcript variant X26	XM_017012052.1:c.	N/A	Intron Variant
GRB10 transcript variant X27	XM_017012053.1:c.	N/A	Intron Variant
GRB10 transcript variant X28	XM_017012054.1:c.	N/A	Intron Variant
GRB10 transcript variant X29	XM_017012055.1:c.	N/A	Intron Variant
GRB10 transcript variant X30	XM_017012056.1:c.	N/A	Intron Variant
GRB10 transcript variant X31	XM_017012057.1:c.	N/A	Intron Variant
GRB10 transcript variant X28	XM_017012058.1:c.	N/A	Intron Variant
GRB10 transcript variant X33	XM_017012059.1:c.	N/A	Intron Variant
GRB10 transcript variant X34	XM_017012060.1:c.	N/A	Intron Variant
GRB10 transcript variant X35	XM_017012061.1:c.	N/A	Intron Variant
GRB10 transcript variant X36	XM_017012062.1:c.	N/A	Intron Variant
GRB10 transcript variant X37	XM_017012063.1:c.	N/A	Intron Variant
GRB10 transcript variant X38	XM_017012064.1:c.	N/A	Intron Variant
GRB10 transcript variant X40	XM_017012065.1:c.	N/A	Intron Variant
GRB10 transcript variant X41	XM_017012066.1:c.	N/A	Intron Variant
GRB10 transcript variant X37	XM_017012067.1:c.	N/A	Intron Variant
GRB10 transcript variant X43	XM_017012068.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.834	G=0.166
1000Genomes	American	Sub	694	A=0.970	G=0.030
1000Genomes	East Asian	Sub	1008	A=1.000	G=0.000
1000Genomes	Europe	Sub	1006	A=0.981	G=0.019
1000Genomes	Global	Study-wide	5008	A=0.946	G=0.054
1000Genomes	South Asian	Sub	978	A=0.990	G=0.010
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.984	G=0.016
The Genome Aggregation Database	African	Sub	8714	A=0.847	G=0.153
The Genome Aggregation Database	American	Sub	838	A=0.980	G=0.020
The Genome Aggregation Database	East Asian	Sub	1622	A=1.000	G=0.000
The Genome Aggregation Database	Europe	Sub	18494	A=0.984	G=0.015
The Genome Aggregation Database	Global	Study-wide	29970	A=0.945	G=0.054
The Genome Aggregation Database	Other	Sub	302	A=1.000	G=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.918	G=0.081
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.984	G=0.016

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
rs2190498	5.41E-05	alcohol consumption	23953852

eQTL of rs2190498 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 rs2190498 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 )
chr7	50698265	50698333	E067	8751
chr7	50708521	50708601	E067	19007
chr7	50716383	50716505	E067	26869
chr7	50716601	50716756	E067	27087
chr7	50719358	50719422	E067	29844
chr7	50719443	50719513	E067	29929
chr7	50719571	50719653	E067	30057
chr7	50720058	50720174	E067	30544
chr7	50720265	50720322	E067	30751
chr7	50720559	50722241	E067	31045
chr7	50722320	50722364	E067	32806
chr7	50722688	50722822	E067	33174
chr7	50722832	50722897	E067	33318
chr7	50723266	50723320	E067	33752
chr7	50723347	50723646	E067	33833
chr7	50723683	50723744	E067	34169
chr7	50723829	50723931	E067	34315
chr7	50723962	50724682	E067	34448
chr7	50724731	50724827	E067	35217
chr7	50724866	50725815	E067	35352
chr7	50726074	50726205	E067	36560
chr7	50729253	50729949	E067	39739
chr7	50730031	50730115	E067	40517
chr7	50730134	50730422	E067	40620
chr7	50730501	50730571	E067	40987
chr7	50730903	50730986	E067	41389
chr7	50731048	50731212	E067	41534
chr7	50731304	50731838	E067	41790
chr7	50734277	50734364	E067	44763
chr7	50734790	50734844	E067	45276
chr7	50734863	50734959	E067	45349
chr7	50735040	50735859	E067	45526
chr7	50738529	50738898	E067	49015
chr7	50738983	50739023	E067	49469
chr7	50695536	50696460	E068	6022
chr7	50698499	50699240	E068	8985
chr7	50699273	50699438	E068	9759
chr7	50699463	50699575	E068	9949
chr7	50699582	50699640	E068	10068
chr7	50708033	50708377	E068	18519
chr7	50708521	50708601	E068	19007
chr7	50708660	50709763	E068	19146
chr7	50710962	50711107	E068	21448
chr7	50716383	50716505	E068	26869
chr7	50716601	50716756	E068	27087
chr7	50716943	50716987	E068	27429
chr7	50720058	50720174	E068	30544
chr7	50720265	50720322	E068	30751
chr7	50720559	50722241	E068	31045
chr7	50722320	50722364	E068	32806
chr7	50722688	50722822	E068	33174
chr7	50722832	50722897	E068	33318
chr7	50723266	50723320	E068	33752
chr7	50723347	50723646	E068	33833
chr7	50723683	50723744	E068	34169
chr7	50723829	50723931	E068	34315
chr7	50723962	50724682	E068	34448
chr7	50724731	50724827	E068	35217
chr7	50724866	50725815	E068	35352
chr7	50726074	50726205	E068	36560
chr7	50729253	50729949	E068	39739
chr7	50730031	50730115	E068	40517
chr7	50730134	50730422	E068	40620
chr7	50730501	50730571	E068	40987
chr7	50730903	50730986	E068	41389
chr7	50731048	50731212	E068	41534
chr7	50731304	50731838	E068	41790
chr7	50731893	50732676	E068	42379
chr7	50732760	50732970	E068	43246
chr7	50733171	50733341	E068	43657
chr7	50733379	50733571	E068	43865
chr7	50733858	50733993	E068	44344
chr7	50735040	50735859	E068	45526
chr7	50735930	50736018	E068	46416
chr7	50736084	50736243	E068	46570
chr7	50652602	50653144	E069	-36370
chr7	50707959	50708009	E069	18445
chr7	50708033	50708377	E069	18519
chr7	50708521	50708601	E069	19007
chr7	50708660	50709763	E069	19146
chr7	50712580	50712657	E069	23066
chr7	50712720	50712770	E069	23206
chr7	50713005	50713265	E069	23491
chr7	50716383	50716505	E069	26869
chr7	50716601	50716756	E069	27087
chr7	50720058	50720174	E069	30544
chr7	50720265	50720322	E069	30751
chr7	50720559	50722241	E069	31045
chr7	50722320	50722364	E069	32806
chr7	50722688	50722822	E069	33174
chr7	50722832	50722897	E069	33318
chr7	50723266	50723320	E069	33752
chr7	50723347	50723646	E069	33833
chr7	50723683	50723744	E069	34169
chr7	50723829	50723931	E069	34315
chr7	50723962	50724682	E069	34448
chr7	50724731	50724827	E069	35217
chr7	50724866	50725815	E069	35352
chr7	50726074	50726205	E069	36560
chr7	50731048	50731212	E069	41534
chr7	50731304	50731838	E069	41790
chr7	50734790	50734844	E069	45276
chr7	50734863	50734959	E069	45349
chr7	50735040	50735859	E069	45526
chr7	50735930	50736018	E069	46416
chr7	50736084	50736243	E069	46570
chr7	50695536	50696460	E071	6022
chr7	50697783	50697857	E071	8269
chr7	50697862	50697967	E071	8348
chr7	50698162	50698220	E071	8648
chr7	50698265	50698333	E071	8751
chr7	50698358	50698460	E071	8844
chr7	50698499	50699240	E071	8985
chr7	50699273	50699438	E071	9759
chr7	50699463	50699575	E071	9949
chr7	50699582	50699640	E071	10068
chr7	50707959	50708009	E071	18445
chr7	50708033	50708377	E071	18519
chr7	50708521	50708601	E071	19007
chr7	50708660	50709763	E071	19146
chr7	50710962	50711107	E071	21448
chr7	50712580	50712657	E071	23066
chr7	50716383	50716505	E071	26869
chr7	50716601	50716756	E071	27087
chr7	50716943	50716987	E071	27429
chr7	50717076	50717167	E071	27562
chr7	50720058	50720174	E071	30544
chr7	50720265	50720322	E071	30751
chr7	50720559	50722241	E071	31045
chr7	50722320	50722364	E071	32806
chr7	50722688	50722822	E071	33174
chr7	50722832	50722897	E071	33318
chr7	50723266	50723320	E071	33752
chr7	50723347	50723646	E071	33833
chr7	50723683	50723744	E071	34169
chr7	50723829	50723931	E071	34315
chr7	50723962	50724682	E071	34448
chr7	50724731	50724827	E071	35217
chr7	50724866	50725815	E071	35352
chr7	50730031	50730115	E071	40517
chr7	50730134	50730422	E071	40620
chr7	50730501	50730571	E071	40987
chr7	50730903	50730986	E071	41389
chr7	50731048	50731212	E071	41534
chr7	50731304	50731838	E071	41790
chr7	50731893	50732676	E071	42379
chr7	50732760	50732970	E071	43246
chr7	50733171	50733341	E071	43657
chr7	50733379	50733571	E071	43865
chr7	50733593	50733786	E071	44079
chr7	50733858	50733993	E071	44344
chr7	50734047	50734126	E071	44533
chr7	50734277	50734364	E071	44763
chr7	50734790	50734844	E071	45276
chr7	50734863	50734959	E071	45349
chr7	50735040	50735859	E071	45526
chr7	50735930	50736018	E071	46416
chr7	50738983	50739023	E071	49469
chr7	50699273	50699438	E072	9759
chr7	50699463	50699575	E072	9949
chr7	50707959	50708009	E072	18445
chr7	50708033	50708377	E072	18519
chr7	50708521	50708601	E072	19007
chr7	50708660	50709763	E072	19146
chr7	50710962	50711107	E072	21448
chr7	50716383	50716505	E072	26869
chr7	50716601	50716756	E072	27087
chr7	50716943	50716987	E072	27429
chr7	50720265	50720322	E072	30751
chr7	50720559	50722241	E072	31045
chr7	50722320	50722364	E072	32806
chr7	50723347	50723646	E072	33833
chr7	50723683	50723744	E072	34169
chr7	50723829	50723931	E072	34315
chr7	50723962	50724682	E072	34448
chr7	50724731	50724827	E072	35217
chr7	50724866	50725815	E072	35352
chr7	50726074	50726205	E072	36560
chr7	50731048	50731212	E072	41534
chr7	50731304	50731838	E072	41790
chr7	50731893	50732676	E072	42379
chr7	50735040	50735859	E072	45526
chr7	50735930	50736018	E072	46416
chr7	50738983	50739023	E072	49469
chr7	50739029	50739413	E072	49515
chr7	50699273	50699438	E073	9759
chr7	50699463	50699575	E073	9949
chr7	50699582	50699640	E073	10068
chr7	50707959	50708009	E073	18445
chr7	50708033	50708377	E073	18519
chr7	50708521	50708601	E073	19007
chr7	50708660	50709763	E073	19146
chr7	50720058	50720174	E073	30544
chr7	50720265	50720322	E073	30751
chr7	50720559	50722241	E073	31045
chr7	50722320	50722364	E073	32806
chr7	50722688	50722822	E073	33174
chr7	50723962	50724682	E073	34448
chr7	50724731	50724827	E073	35217
chr7	50724866	50725815	E073	35352
chr7	50726074	50726205	E073	36560
chr7	50731048	50731212	E073	41534
chr7	50731304	50731838	E073	41790
chr7	50695536	50696460	E074	6022
chr7	50698499	50699240	E074	8985
chr7	50699273	50699438	E074	9759
chr7	50699463	50699575	E074	9949
chr7	50699582	50699640	E074	10068
chr7	50700009	50701353	E074	10495
chr7	50707959	50708009	E074	18445
chr7	50708033	50708377	E074	18519
chr7	50708521	50708601	E074	19007
chr7	50708660	50709763	E074	19146
chr7	50710962	50711107	E074	21448
chr7	50712580	50712657	E074	23066
chr7	50712720	50712770	E074	23206
chr7	50713005	50713265	E074	23491
chr7	50716383	50716505	E074	26869
chr7	50716601	50716756	E074	27087
chr7	50716943	50716987	E074	27429
chr7	50717076	50717167	E074	27562
chr7	50720058	50720174	E074	30544
chr7	50720265	50720322	E074	30751
chr7	50720559	50722241	E074	31045
chr7	50722320	50722364	E074	32806
chr7	50722688	50722822	E074	33174
chr7	50722832	50722897	E074	33318
chr7	50723266	50723320	E074	33752
chr7	50723347	50723646	E074	33833
chr7	50723683	50723744	E074	34169
chr7	50723829	50723931	E074	34315
chr7	50723962	50724682	E074	34448
chr7	50724731	50724827	E074	35217
chr7	50724866	50725815	E074	35352
chr7	50726074	50726205	E074	36560
chr7	50730031	50730115	E074	40517
chr7	50730134	50730422	E074	40620
chr7	50730903	50730986	E074	41389
chr7	50731048	50731212	E074	41534
chr7	50731304	50731838	E074	41790
chr7	50731893	50732676	E074	42379
chr7	50732760	50732970	E074	43246
chr7	50733171	50733341	E074	43657
chr7	50733379	50733571	E074	43865
chr7	50733593	50733786	E074	44079
chr7	50735040	50735859	E074	45526
chr7	50735930	50736018	E074	46416
chr7	50736084	50736243	E074	46570
chr7	50736341	50736411	E074	46827
chr7	50736436	50736530	E074	46922
chr7	50739029	50739413	E074	49515
chr7	50687439	50687543	E081	-1971
chr7	50687760	50687892	E081	-1622