rs6755144

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

SLC8A1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0287 (8591/29848,GnomAD)
G=0303 (8836/29116,TOPMED)
G=0291 (1458/5008,1000G)
G=0216 (831/3854,ALSPAC)
G=0204 (757/3708,TWINSUK)

Position: chr2:40409100 (GRCh38.p7) (2p22.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 99 Enhancers around

Promoter: 25 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 2	NC_000002.12:g.40409100A>G
GRCh37.p13 chr 2	NC_000002.11:g.40636240A>G

Gene: SLC8A1, solute carrier family 8 member A1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC8A1 transcript variant B	NM_001112800.1:c.	N/A	Intron Variant
SLC8A1 transcript variant C	NM_001112801.1:c.	N/A	Intron Variant
SLC8A1 transcript variant D	NM_001112802.1:c.	N/A	Intron Variant
SLC8A1 transcript variant E	NM_001252624.1:c.	N/A	Intron Variant
SLC8A1 transcript variant A	NM_021097.2:c.	N/A	Intron Variant
SLC8A1 transcript variant X30	XM_005264514.3:c.	N/A	Intron Variant
SLC8A1 transcript variant X8	XM_006712081.2:c.	N/A	Intron Variant
SLC8A1 transcript variant X7	XM_006712082.3:c.	N/A	Intron Variant
SLC8A1 transcript variant X12	XM_006712083.3:c.	N/A	Intron Variant
SLC8A1 transcript variant X14	XM_006712084.3:c.	N/A	Intron Variant
SLC8A1 transcript variant X16	XM_006712085.3:c.	N/A	Intron Variant
SLC8A1 transcript variant X3	XM_011533050.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X10	XM_011533054.2:c.	N/A	Intron Variant
SLC8A1 transcript variant X15	XM_011533055.2:c.	N/A	Intron Variant
SLC8A1 transcript variant X17	XM_011533056.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X19	XM_011533057.2:c.	N/A	Intron Variant
SLC8A1 transcript variant X21	XM_011533058.2:c.	N/A	Intron Variant
SLC8A1 transcript variant X1	XM_017004745.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X2	XM_017004746.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X4	XM_017004747.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X5	XM_017004748.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X6	XM_017004749.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X9	XM_017004750.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X11	XM_017004751.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X13	XM_017004752.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X18	XM_017004753.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X20	XM_017004754.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X21	XM_017004755.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X22	XM_017004756.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X23	XM_017004757.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X24	XM_017004758.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X25	XM_017004759.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X26	XM_017004760.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X27	XM_017004761.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X28	XM_017004762.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X29	XM_017004763.1:c.	N/A	Intron Variant
SLC8A1 transcript variant X22	XM_017004764.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.656	G=0.344
1000Genomes	American	Sub	694	A=0.630	G=0.370
1000Genomes	East Asian	Sub	1008	A=0.719	G=0.281
1000Genomes	Europe	Sub	1006	A=0.745	G=0.255
1000Genomes	Global	Study-wide	5008	A=0.709	G=0.291
1000Genomes	South Asian	Sub	978	A=0.790	G=0.210
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.784	G=0.216
The Genome Aggregation Database	African	Sub	8688	A=0.652	G=0.348
The Genome Aggregation Database	American	Sub	834	A=0.650	G=0.350
The Genome Aggregation Database	East Asian	Sub	1608	A=0.708	G=0.292
The Genome Aggregation Database	Europe	Sub	18416	A=0.742	G=0.257
The Genome Aggregation Database	Global	Study-wide	29848	A=0.712	G=0.287
The Genome Aggregation Database	Other	Sub	302	A=0.770	G=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.696	G=0.303
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.796	G=0.204

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs6755144	4.04E-05	alcohol consumption	23743675

eQTL of rs6755144 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 rs6755144 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 )
chr2	40592762	40592812	E067	-43428
chr2	40680221	40680344	E067	43981
chr2	40598523	40599254	E068	-36986
chr2	40622170	40622713	E068	-13527
chr2	40627557	40627653	E068	-8587
chr2	40627671	40627842	E068	-8398
chr2	40627850	40628015	E068	-8225
chr2	40628179	40628311	E068	-7929
chr2	40630069	40630122	E068	-6118
chr2	40630190	40630288	E068	-5952
chr2	40630466	40631036	E068	-5204
chr2	40631185	40631520	E068	-4720
chr2	40632632	40632926	E068	-3314
chr2	40645655	40645870	E068	9415
chr2	40645885	40646113	E068	9645
chr2	40646445	40646575	E068	10205
chr2	40646584	40646723	E068	10344
chr2	40646750	40646801	E068	10510
chr2	40658197	40658400	E068	21957
chr2	40658445	40658626	E068	22205
chr2	40658672	40659036	E068	22432
chr2	40661830	40662676	E068	25590
chr2	40662694	40662774	E068	26454
chr2	40662969	40663073	E068	26729
chr2	40663145	40663217	E068	26905
chr2	40663327	40663442	E068	27087
chr2	40664516	40664665	E068	28276
chr2	40666163	40666313	E068	29923
chr2	40666513	40666557	E068	30273
chr2	40666724	40666926	E068	30484
chr2	40672729	40672947	E068	36489
chr2	40646445	40646575	E069	10205
chr2	40646584	40646723	E069	10344
chr2	40647891	40648017	E069	11651
chr2	40590461	40590616	E070	-45624
chr2	40622880	40623078	E070	-13162
chr2	40623158	40623266	E070	-12974
chr2	40623444	40623562	E070	-12678
chr2	40630466	40631036	E070	-5204
chr2	40631185	40631520	E070	-4720
chr2	40632632	40632926	E070	-3314
chr2	40646445	40646575	E070	10205
chr2	40646584	40646723	E070	10344
chr2	40646750	40646801	E070	10510
chr2	40680221	40680344	E070	43981
chr2	40680346	40680656	E070	44106
chr2	40680699	40681048	E070	44459
chr2	40622170	40622713	E071	-13527
chr2	40622880	40623078	E071	-13162
chr2	40630466	40631036	E071	-5204
chr2	40631185	40631520	E071	-4720
chr2	40647891	40648017	E072	11651
chr2	40658197	40658400	E072	21957
chr2	40658445	40658626	E072	22205
chr2	40680221	40680344	E072	43981
chr2	40680346	40680656	E072	44106
chr2	40622170	40622713	E073	-13527
chr2	40622880	40623078	E073	-13162
chr2	40645655	40645870	E073	9415
chr2	40645885	40646113	E073	9645
chr2	40646584	40646723	E073	10344
chr2	40647891	40648017	E073	11651
chr2	40680221	40680344	E073	43981
chr2	40593479	40593611	E081	-42629
chr2	40593919	40594063	E081	-42177
chr2	40594292	40594414	E081	-41826
chr2	40594842	40595132	E081	-41108
chr2	40621074	40621173	E081	-15067
chr2	40621266	40621437	E081	-14803
chr2	40621562	40621733	E081	-14507
chr2	40621758	40622127	E081	-14113
chr2	40622170	40622713	E081	-13527
chr2	40622880	40623078	E081	-13162
chr2	40630466	40631036	E081	-5204
chr2	40631185	40631520	E081	-4720
chr2	40636779	40636837	E081	539
chr2	40636880	40637210	E081	640
chr2	40643116	40643169	E081	6876
chr2	40645885	40646113	E081	9645
chr2	40654365	40654566	E081	18125
chr2	40665188	40665444	E081	28948
chr2	40675572	40675707	E081	39332
chr2	40680221	40680344	E081	43981
chr2	40680346	40680656	E081	44106
chr2	40590461	40590616	E082	-45624
chr2	40593479	40593611	E082	-42629
chr2	40593919	40594063	E082	-42177
chr2	40621266	40621437	E082	-14803
chr2	40621562	40621733	E082	-14507
chr2	40621758	40622127	E082	-14113
chr2	40622170	40622713	E082	-13527
chr2	40625246	40625328	E082	-10912
chr2	40630466	40631036	E082	-5204
chr2	40631185	40631520	E082	-4720
chr2	40632632	40632926	E082	-3314
chr2	40645655	40645870	E082	9415
chr2	40645885	40646113	E082	9645
chr2	40646445	40646575	E082	10205
chr2	40646584	40646723	E082	10344

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr2	40677123	40679808	E067	40883
chr2	40679841	40680126	E067	43601
chr2	40591236	40591565	E068	-44675
chr2	40631735	40632015	E068	-4225
chr2	40677123	40679808	E068	40883
chr2	40679841	40680126	E068	43601
chr2	40631735	40632015	E069	-4225
chr2	40677123	40679808	E069	40883
chr2	40679841	40680126	E069	43601
chr2	40677123	40679808	E070	40883
chr2	40679841	40680126	E070	43601
chr2	40631735	40632015	E071	-4225
chr2	40677123	40679808	E071	40883
chr2	40677123	40679808	E072	40883
chr2	40679841	40680126	E072	43601
chr2	40677123	40679808	E073	40883
chr2	40679841	40680126	E073	43601
chr2	40631735	40632015	E074	-4225
chr2	40677123	40679808	E074	40883
chr2	40679841	40680126	E074	43601
chr2	40677123	40679808	E081	40883
chr2	40679841	40680126	E081	43601
chr2	40631735	40632015	E082	-4225
chr2	40677123	40679808	E082	40883
chr2	40679841	40680126	E082	43601