rs592676

Organism: Homo sapiens

Alleles: T>A

Gene : Feature

KCNMA1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0470 (14084/29924,GnomAD)
A=0461 (13439/29118,TOPMED)
A=0333 (1667/5008,1000G)
T==0413 (1591/3854,ALSPAC)
T==0420 (1559/3708,TWINSUK)

Position: chr10:77294199 (GRCh38.p7) (10q22.3)

Phenotype: ND

Dataset:

GWASdb2

Publications: 2 publication(s)

Genomic View: See rs on genome

Enhancer: 221 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 10	NC_000010.11:g.77294199T>A
GRCh37.p13 chr 10	NC_000010.10:g.79053957T>A
KCNMA1 RefSeqGene	NG_012270.1:g.348621A>T

Gene: KCNMA1, potassium calcium-activated channel subfamily M alpha 1(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNMA1 transcript variant 1	NM_001014797.2:c.	N/A	Intron Variant
KCNMA1 transcript variant 3	NM_001161352.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 4	NM_001161353.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 5	NM_001271518.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 6	NM_001271519.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 10	NM_001322829.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 11	NM_001322830.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 12	NM_001322832.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 13	NM_001322835.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 14	NM_001322836.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 15	NM_001322837.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 16	NM_001322838.1:c.	N/A	Intron Variant
KCNMA1 transcript variant 2	NM_002247.3:c.	N/A	Intron Variant
KCNMA1 transcript variant 7	NM_001271520.1:c.	N/A	Genic Downstream Transcript Variant
KCNMA1 transcript variant 8	NM_001271521.1:c.	N/A	Genic Downstream Transcript Variant
KCNMA1 transcript variant 9	NM_001271522.1:c.	N/A	Genic Downstream Transcript Variant
KCNMA1 transcript variant 17	NM_001322839.1:c.	N/A	Genic Downstream Transcript Variant
KCNMA1 transcript variant X34	XM_005269776.3:c.	N/A	Intron Variant
KCNMA1 transcript variant X17	XM_005269778.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X18	XM_005269781.2:c.	N/A	Intron Variant
KCNMA1 transcript variant X35	XM_005269787.3:c.	N/A	Intron Variant
KCNMA1 transcript variant X24	XM_005269789.2:c.	N/A	Intron Variant
KCNMA1 transcript variant X25	XM_005269792.2:c.	N/A	Intron Variant
KCNMA1 transcript variant X28	XM_005269796.2:c.	N/A	Intron Variant
KCNMA1 transcript variant X26	XM_006717826.2:c.	N/A	Intron Variant
KCNMA1 transcript variant X4	XM_011539773.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X6	XM_011539774.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X7	XM_011539775.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X8	XM_011539776.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X9	XM_011539777.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X9	XM_011539778.2:c.	N/A	Intron Variant
KCNMA1 transcript variant X13	XM_011539779.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X16	XM_011539780.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X20	XM_011539781.2:c.	N/A	Intron Variant
KCNMA1 transcript variant X21	XM_011539782.2:c.	N/A	Intron Variant
KCNMA1 transcript variant X24	XM_011539783.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X31	XM_011539784.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X36	XM_011539785.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X1	XM_017016207.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X2	XM_017016208.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X3	XM_017016209.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X5	XM_017016210.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X11	XM_017016211.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X12	XM_017016212.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X14	XM_017016213.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X15	XM_017016214.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X18	XM_017016215.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X21	XM_017016216.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X22	XM_017016217.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X29	XM_017016218.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X30	XM_017016219.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X37	XM_017016222.1:c.	N/A	Intron Variant
KCNMA1 transcript variant X43	XM_017016223.1:c.	N/A	Genic Upstream Transcript Variant
KCNMA1 transcript variant X32	XM_017016220.1:c.	N/A	Genic Downstream Transcript Variant
KCNMA1 transcript variant X33	XM_017016221.1:c.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.696	A=0.304
1000Genomes	American	Sub	694	T=0.590	A=0.410
1000Genomes	East Asian	Sub	1008	T=0.857	A=0.143
1000Genomes	Europe	Sub	1006	T=0.417	A=0.583
1000Genomes	Global	Study-wide	5008	T=0.667	A=0.333
1000Genomes	South Asian	Sub	978	T=0.740	A=0.260
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.413	A=0.587
The Genome Aggregation Database	African	Sub	8694	T=0.665	A=0.335
The Genome Aggregation Database	American	Sub	838	T=0.540	A=0.460
The Genome Aggregation Database	East Asian	Sub	1618	T=0.828	A=0.172
The Genome Aggregation Database	Europe	Sub	18472	T=0.438	A=0.561
The Genome Aggregation Database	Global	Study-wide	29924	T=0.529	A=0.470
The Genome Aggregation Database	Other	Sub	302	T=0.520	A=0.480
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.538	A=0.461
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.420	A=0.580

PMID	Title	Author	Journal
21314694	Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.	Kendler KS	Alcohol Clin Exp Res
20158304	A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.	Lind PA	Twin Res Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs592676	8.91E-05	alcohol and nictotine co-dependence	20158304

eQTL of rs592676 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 rs592676 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 )
chr10	79006224	79006335	E067	-47622
chr10	79006512	79006734	E067	-47223
chr10	79013407	79013489	E067	-40468
chr10	79013531	79013581	E067	-40376
chr10	79027961	79028356	E067	-25601
chr10	79028434	79028508	E067	-25449
chr10	79028578	79028794	E067	-25163
chr10	79028829	79028879	E067	-25078
chr10	79033505	79033692	E067	-20265
chr10	79033745	79034503	E067	-19454
chr10	79047367	79047903	E067	-6054
chr10	79047908	79048052	E067	-5905
chr10	79067918	79068012	E067	13961
chr10	79068107	79068582	E067	14150
chr10	79068765	79068883	E067	14808
chr10	79069727	79069815	E067	15770
chr10	79069904	79069954	E067	15947
chr10	79069962	79070070	E067	16005
chr10	79070116	79070676	E067	16159
chr10	79070816	79070861	E067	16859
chr10	79070924	79071011	E067	16967
chr10	79091803	79091870	E067	37846
chr10	79092003	79092043	E067	38046
chr10	79092066	79092279	E067	38109
chr10	79092317	79092460	E067	38360
chr10	79092688	79093017	E067	38731
chr10	79005744	79006187	E068	-47770
chr10	79006224	79006335	E068	-47622
chr10	79006512	79006734	E068	-47223
chr10	79006758	79007577	E068	-46380
chr10	79007631	79007709	E068	-46248
chr10	79007747	79008451	E068	-45506
chr10	79026063	79026326	E068	-27631
chr10	79026825	79026875	E068	-27082
chr10	79027545	79027717	E068	-26240
chr10	79027815	79027932	E068	-26025
chr10	79027961	79028356	E068	-25601
chr10	79028434	79028508	E068	-25449
chr10	79028578	79028794	E068	-25163
chr10	79028829	79028879	E068	-25078
chr10	79029857	79029933	E068	-24024
chr10	79033505	79033692	E068	-20265
chr10	79033745	79034503	E068	-19454
chr10	79047367	79047903	E068	-6054
chr10	79047908	79048052	E068	-5905
chr10	79050258	79051182	E068	-2775
chr10	79069727	79069815	E068	15770
chr10	79069904	79069954	E068	15947
chr10	79069962	79070070	E068	16005
chr10	79070116	79070676	E068	16159
chr10	79070816	79070861	E068	16859
chr10	79070924	79071011	E068	16967
chr10	79071012	79071297	E068	17055
chr10	79078277	79078331	E068	24320
chr10	79078566	79078792	E068	24609
chr10	79080191	79081714	E068	26234
chr10	79009528	79010236	E069	-43721
chr10	79026063	79026326	E069	-27631
chr10	79046619	79047121	E069	-6836
chr10	79069727	79069815	E069	15770
chr10	79069904	79069954	E069	15947
chr10	79069962	79070070	E069	16005
chr10	79070116	79070676	E069	16159
chr10	79070816	79070861	E069	16859
chr10	79070924	79071011	E069	16967
chr10	79071012	79071297	E069	17055
chr10	79071561	79071699	E069	17604
chr10	79072509	79072615	E069	18552
chr10	79072754	79072804	E069	18797
chr10	79072989	79073080	E069	19032
chr10	79092003	79092043	E069	38046
chr10	79092066	79092279	E069	38109
chr10	79092317	79092460	E069	38360
chr10	79092688	79093017	E069	38731
chr10	79098525	79098575	E069	44568
chr10	79012180	79012268	E070	-41689
chr10	79012306	79012520	E070	-41437
chr10	79012687	79012849	E070	-41108
chr10	79012888	79013341	E070	-40616
chr10	79013407	79013489	E070	-40468
chr10	79013531	79013581	E070	-40376
chr10	79032520	79032629	E070	-21328
chr10	79033505	79033692	E070	-20265
chr10	79033745	79034503	E070	-19454
chr10	79004105	79004205	E071	-49752
chr10	79004242	79005099	E071	-48858
chr10	79006512	79006734	E071	-47223
chr10	79006758	79007577	E071	-46380
chr10	79007631	79007709	E071	-46248
chr10	79012888	79013341	E071	-40616
chr10	79027545	79027717	E071	-26240
chr10	79028434	79028508	E071	-25449
chr10	79028578	79028794	E071	-25163
chr10	79028829	79028879	E071	-25078
chr10	79047213	79047336	E071	-6621
chr10	79047367	79047903	E071	-6054
chr10	79069727	79069815	E071	15770
chr10	79069904	79069954	E071	15947
chr10	79069962	79070070	E071	16005
chr10	79070116	79070676	E071	16159
chr10	79070816	79070861	E071	16859
chr10	79070924	79071011	E071	16967
chr10	79071012	79071297	E071	17055
chr10	79071561	79071699	E071	17604
chr10	79072989	79073080	E071	19032
chr10	79090405	79090474	E071	36448
chr10	79091803	79091870	E071	37846
chr10	79092003	79092043	E071	38046
chr10	79092066	79092279	E071	38109
chr10	79092317	79092460	E071	38360
chr10	79006512	79006734	E072	-47223
chr10	79006758	79007577	E072	-46380
chr10	79013407	79013489	E072	-40468
chr10	79013531	79013581	E072	-40376
chr10	79026063	79026326	E072	-27631
chr10	79033505	79033692	E072	-20265
chr10	79046619	79047121	E072	-6836
chr10	79047213	79047336	E072	-6621
chr10	79047367	79047903	E072	-6054
chr10	79053531	79053616	E072	-341
chr10	79053619	79053761	E072	-196
chr10	79053973	79054066	E072	16
chr10	79069727	79069815	E072	15770
chr10	79069904	79069954	E072	15947
chr10	79069962	79070070	E072	16005
chr10	79070116	79070676	E072	16159
chr10	79070816	79070861	E072	16859
chr10	79070924	79071011	E072	16967
chr10	79071012	79071297	E072	17055
chr10	79071561	79071699	E072	17604
chr10	79078277	79078331	E072	24320
chr10	79078566	79078792	E072	24609
chr10	79091803	79091870	E072	37846
chr10	79092003	79092043	E072	38046
chr10	79092066	79092279	E072	38109
chr10	79092317	79092460	E072	38360
chr10	79092688	79093017	E072	38731
chr10	79103574	79103851	E072	49617
chr10	79103886	79103936	E072	49929
chr10	79005744	79006187	E073	-47770
chr10	79006224	79006335	E073	-47622
chr10	79006512	79006734	E073	-47223
chr10	79006758	79007577	E073	-46380
chr10	79026063	79026326	E073	-27631
chr10	79027815	79027932	E073	-26025
chr10	79034667	79034748	E073	-19209
chr10	79046619	79047121	E073	-6836
chr10	79047213	79047336	E073	-6621
chr10	79047367	79047903	E073	-6054
chr10	79047908	79048052	E073	-5905
chr10	79067918	79068012	E073	13961
chr10	79068107	79068582	E073	14150
chr10	79068765	79068883	E073	14808
chr10	79069727	79069815	E073	15770
chr10	79069904	79069954	E073	15947
chr10	79069962	79070070	E073	16005
chr10	79070116	79070676	E073	16159
chr10	79070816	79070861	E073	16859
chr10	79070924	79071011	E073	16967
chr10	79071012	79071297	E073	17055
chr10	79071561	79071699	E073	17604
chr10	79078277	79078331	E073	24320
chr10	79079197	79079340	E073	25240
chr10	79079377	79079625	E073	25420
chr10	79079646	79079754	E073	25689
chr10	79092003	79092043	E073	38046
chr10	79092066	79092279	E073	38109
chr10	79092317	79092460	E073	38360
chr10	79092688	79093017	E073	38731
chr10	79093442	79093698	E073	39485
chr10	79093776	79094027	E073	39819
chr10	79097893	79098250	E073	43936
chr10	79098525	79098575	E073	44568
chr10	79098652	79098823	E073	44695
chr10	79098860	79099334	E073	44903
chr10	79099432	79099521	E073	45475
chr10	79099716	79099776	E073	45759
chr10	79053973	79054066	E074	16
chr10	79054120	79054241	E074	163
chr10	79075357	79075509	E074	21400
chr10	79006512	79006734	E081	-47223
chr10	79006758	79007577	E081	-46380
chr10	79007631	79007709	E081	-46248
chr10	79007747	79008451	E081	-45506
chr10	79008548	79008646	E081	-45311
chr10	79008928	79009038	E081	-44919
chr10	79009528	79010236	E081	-43721
chr10	79010804	79010873	E081	-43084
chr10	79011019	79011072	E081	-42885
chr10	79011098	79011323	E081	-42634
chr10	79011502	79011603	E081	-42354
chr10	79011661	79011715	E081	-42242
chr10	79011739	79011789	E081	-42168
chr10	79011884	79011938	E081	-42019
chr10	79012180	79012268	E081	-41689
chr10	79012306	79012520	E081	-41437
chr10	79012687	79012849	E081	-41108
chr10	79012888	79013341	E081	-40616
chr10	79045075	79045159	E081	-8798
chr10	79046510	79046560	E081	-7397
chr10	79046619	79047121	E081	-6836
chr10	79047213	79047336	E081	-6621
chr10	79047367	79047903	E081	-6054
chr10	79053531	79053616	E081	-341
chr10	79053619	79053761	E081	-196
chr10	79070116	79070676	E081	16159
chr10	79070816	79070861	E081	16859
chr10	79070924	79071011	E081	16967
chr10	79071012	79071297	E081	17055
chr10	79071561	79071699	E081	17604
chr10	79078277	79078331	E081	24320
chr10	79078566	79078792	E081	24609
chr10	79079197	79079340	E081	25240
chr10	79102401	79102489	E081	48444
chr10	79103574	79103851	E081	49617
chr10	79103886	79103936	E081	49929
chr10	79006512	79006734	E082	-47223
chr10	79006758	79007577	E082	-46380
chr10	79046619	79047121	E082	-6836
chr10	79047213	79047336	E082	-6621
chr10	79047367	79047903	E082	-6054