rs10824494

Organism: Homo sapiens

Alleles: C>A / C>G

Gene : Feature

KCNMA1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0062 (1856/29938,GnomAD)
A=0067 (338/5008,1000G)
A=0086 (333/3854,ALSPAC)
A=0088 (327/3708,TWINSUK)

Position: chr10:77158539 (GRCh38.p7) (10q22.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 63 Enhancers around

Promoter: 10 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 10	NC_000010.11:g.77158539C>A
GRCh38.p7 chr 10	NC_000010.11:g.77158539C>G
GRCh37.p13 chr 10	NC_000010.10:g.78918297C>A
GRCh37.p13 chr 10	NC_000010.10:g.78918297C>G
KCNMA1 RefSeqGene	NG_012270.1:g.484281G>T
KCNMA1 RefSeqGene	NG_012270.1:g.484281G>C

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	Intron 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	C=0.977	A=0.017
1000Genomes	American	Sub	694	C=0.960	A=0.04,
1000Genomes	East Asian	Sub	1008	C=0.963	A=0.037
1000Genomes	Europe	Sub	1006	C=0.919	A=0.081
1000Genomes	Global	Study-wide	5008	C=0.931	A=0.067
1000Genomes	South Asian	Sub	978	C=0.830	A=0.17,
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.914	A=0.086
The Genome Aggregation Database	African	Sub	8716	C=0.968	A=0.030
The Genome Aggregation Database	American	Sub	836	C=0.960	A=0.04,
The Genome Aggregation Database	East Asian	Sub	1608	C=0.937	A=0.063
The Genome Aggregation Database	Europe	Sub	18476	C=0.922	A=0.077
The Genome Aggregation Database	Global	Study-wide	29938	C=0.937	A=0.062
The Genome Aggregation Database	Other	Sub	302	C=0.880	A=0.12,
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.912	A=0.088

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs10824494	0.000858	alcohol dependence	24277619

eQTL of rs10824494 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 rs10824494 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	85900839	85900899	E067	2679
chr10	85901029	85901103	E067	2869
chr10	85937018	85937209	E067	38858
chr10	85937316	85939603	E067	39156
chr10	85900839	85900899	E068	2679
chr10	85901029	85901103	E068	2869
chr10	85901264	85901340	E068	3104
chr10	85900839	85900899	E069	2679
chr10	85901029	85901103	E069	2869
chr10	85901264	85901340	E069	3104
chr10	85936843	85936911	E069	38683
chr10	85937018	85937209	E069	38858
chr10	85855379	85855499	E070	-42661
chr10	85855625	85856235	E070	-41925
chr10	85877601	85877764	E070	-20396
chr10	85877813	85877867	E070	-20293
chr10	85900839	85900899	E070	2679
chr10	85901029	85901103	E070	2869
chr10	85901264	85901340	E070	3104
chr10	85855625	85856235	E071	-41925
chr10	85900839	85900899	E071	2679
chr10	85901029	85901103	E071	2869
chr10	85901264	85901340	E071	3104
chr10	85900839	85900899	E072	2679
chr10	85901029	85901103	E072	2869
chr10	85901264	85901340	E072	3104
chr10	85937018	85937209	E072	38858
chr10	85937316	85939603	E072	39156
chr10	85900839	85900899	E073	2679
chr10	85901029	85901103	E073	2869
chr10	85901264	85901340	E073	3104
chr10	85937018	85937209	E073	38858
chr10	85937316	85939603	E073	39156
chr10	85900839	85900899	E074	2679
chr10	85901029	85901103	E074	2869
chr10	85901264	85901340	E074	3104
chr10	85854733	85854803	E081	-43357
chr10	85854904	85854958	E081	-43202
chr10	85855379	85855499	E081	-42661
chr10	85855625	85856235	E081	-41925
chr10	85856571	85856651	E081	-41509
chr10	85856664	85856741	E081	-41419
chr10	85917680	85917766	E081	19520
chr10	85917870	85917920	E081	19710
chr10	85917975	85918064	E081	19815
chr10	85918093	85918148	E081	19933
chr10	85918197	85918281	E081	20037
chr10	85918299	85918351	E081	20139
chr10	85918501	85918582	E081	20341
chr10	85918647	85918709	E081	20487
chr10	85918787	85918875	E081	20627
chr10	85918923	85919445	E081	20763
chr10	85937018	85937209	E081	38858
chr10	85937316	85939603	E081	39156
chr10	85945664	85945752	E081	47504
chr10	85900839	85900899	E082	2679
chr10	85901029	85901103	E082	2869
chr10	85901264	85901340	E082	3104
chr10	85918787	85918875	E082	20627
chr10	85918923	85919445	E082	20763
chr10	85936843	85936911	E082	38683
chr10	85937018	85937209	E082	38858
chr10	85937316	85939603	E082	39156

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr10	85898443	85900196	E067	283
chr10	85898443	85900196	E068	283
chr10	85898443	85900196	E069	283
chr10	85898443	85900196	E070	283
chr10	85898443	85900196	E071	283
chr10	85898443	85900196	E072	283
chr10	85898443	85900196	E073	283
chr10	85898443	85900196	E074	283
chr10	85898443	85900196	E081	283
chr10	85898443	85900196	E082	283