rs4748949

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

KIAA1217 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0149 (4487/29948,GnomAD)
A=0122 (3580/29118,TOPMED)
A=0144 (720/5008,1000G)
A=0131 (506/3854,ALSPAC)
A=0117 (435/3708,TWINSUK)

Position: chr10:24514128 (GRCh38.p7) (10p12.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 68 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.24514128G>A
GRCh37.p13 chr 10	NC_000010.10:g.24803057G>A

Gene: KIAA1217, KIAA1217(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KIAA1217 transcript variant 2	NM_001098500.2:c.	N/A	Intron Variant
KIAA1217 transcript variant 4	NM_001282767.1:c.	N/A	Intron Variant
KIAA1217 transcript variant 5	NM_001282768.1:c.	N/A	Intron Variant
KIAA1217 transcript variant 6	NM_001282769.1:c.	N/A	Intron Variant
KIAA1217 transcript variant 7	NM_001282770.1:c.	N/A	Intron Variant
KIAA1217 transcript variant 8	NM_001321681.1:c.	N/A	Intron Variant
KIAA1217 transcript variant 1	NM_019590.4:c.	N/A	Intron Variant
KIAA1217 transcript variant X14	XM_005252516.3:c.	N/A	Intron Variant
KIAA1217 transcript variant X1	XM_011519552.2:c.	N/A	Intron Variant
KIAA1217 transcript variant X2	XM_011519555.2:c.	N/A	Intron Variant
KIAA1217 transcript variant X3	XM_011519558.2:c.	N/A	Intron Variant
KIAA1217 transcript variant X5	XM_011519559.2:c.	N/A	Intron Variant
KIAA1217 transcript variant X18	XM_011519562.2:c.	N/A	Intron Variant
KIAA1217 transcript variant X22	XM_011519564.2:c.	N/A	Intron Variant
KIAA1217 transcript variant X20	XM_011519565.2:c.	N/A	Intron Variant
KIAA1217 transcript variant X24	XM_011519566.2:c.	N/A	Intron Variant
KIAA1217 transcript variant X4	XM_017016416.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X6	XM_017016417.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X7	XM_017016418.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X8	XM_017016419.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X12	XM_017016420.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X13	XM_017016421.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X14	XM_017016422.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X15	XM_017016423.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X16	XM_017016424.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X16	XM_017016425.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X17	XM_017016426.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X18	XM_017016427.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X22	XM_017016428.1:c.	N/A	Intron Variant
KIAA1217 transcript variant X26	XM_017016429.1:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.862	A=0.138
1000Genomes	American	Sub	694	G=0.850	A=0.150
1000Genomes	East Asian	Sub	1008	G=0.776	A=0.224
1000Genomes	Europe	Sub	1006	G=0.865	A=0.135
1000Genomes	Global	Study-wide	5008	G=0.856	A=0.144
1000Genomes	South Asian	Sub	978	G=0.930	A=0.070
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.869	A=0.131
The Genome Aggregation Database	African	Sub	8718	G=0.875	A=0.125
The Genome Aggregation Database	American	Sub	838	G=0.840	A=0.160
The Genome Aggregation Database	East Asian	Sub	1614	G=0.779	A=0.221
The Genome Aggregation Database	Europe	Sub	18476	G=0.843	A=0.156
The Genome Aggregation Database	Global	Study-wide	29948	G=0.850	A=0.149
The Genome Aggregation Database	Other	Sub	302	G=0.940	A=0.060
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.877	A=0.122
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.883	A=0.117

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs4748949	7.7E-05	alcoholism (heaviness of drinking)	21529783

eQTL of rs4748949 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 rs4748949 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	24801570	24801630	E067	-1427
chr10	24801927	24802032	E067	-1025
chr10	24802084	24802146	E067	-911
chr10	24807839	24808318	E067	4782
chr10	24808444	24808538	E067	5387
chr10	24808550	24808611	E067	5493
chr10	24845298	24845725	E067	42241
chr10	24845817	24846361	E067	42760
chr10	24801570	24801630	E068	-1427
chr10	24801927	24802032	E068	-1025
chr10	24807839	24808318	E068	4782
chr10	24808444	24808538	E068	5387
chr10	24808550	24808611	E068	5493
chr10	24808721	24809342	E068	5664
chr10	24801570	24801630	E069	-1427
chr10	24801927	24802032	E069	-1025
chr10	24802084	24802146	E069	-911
chr10	24808444	24808538	E069	5387
chr10	24808550	24808611	E069	5493
chr10	24808721	24809342	E069	5664
chr10	24845298	24845725	E069	42241
chr10	24763118	24763158	E070	-39899
chr10	24763424	24763489	E070	-39568
chr10	24770311	24770534	E070	-32523
chr10	24771036	24771329	E070	-31728
chr10	24773591	24773695	E070	-29362
chr10	24773787	24773981	E070	-29076
chr10	24791822	24792003	E070	-11054
chr10	24792028	24792227	E070	-10830
chr10	24792236	24793286	E070	-9771
chr10	24793602	24793668	E070	-9389
chr10	24794788	24794970	E070	-8087
chr10	24807839	24808318	E070	4782
chr10	24808444	24808538	E070	5387
chr10	24808550	24808611	E070	5493
chr10	24808721	24809342	E070	5664
chr10	24801570	24801630	E071	-1427
chr10	24801927	24802032	E071	-1025
chr10	24802084	24802146	E071	-911
chr10	24807446	24807764	E071	4389
chr10	24807839	24808318	E071	4782
chr10	24808444	24808538	E071	5387
chr10	24808550	24808611	E071	5493
chr10	24845298	24845725	E071	42241
chr10	24845817	24846361	E071	42760
chr10	24801927	24802032	E072	-1025
chr10	24802084	24802146	E072	-911
chr10	24807839	24808318	E072	4782
chr10	24808444	24808538	E072	5387
chr10	24808550	24808611	E072	5493
chr10	24845298	24845725	E072	42241
chr10	24845817	24846361	E072	42760
chr10	24773787	24773981	E073	-29076
chr10	24771036	24771329	E074	-31728
chr10	24801570	24801630	E074	-1427
chr10	24801927	24802032	E074	-1025
chr10	24802084	24802146	E074	-911
chr10	24808444	24808538	E074	5387
chr10	24808550	24808611	E074	5493
chr10	24808721	24809342	E074	5664
chr10	24845298	24845725	E074	42241
chr10	24822814	24822899	E081	19757
chr10	24823030	24823273	E081	19973
chr10	24767243	24767293	E082	-35764
chr10	24807839	24808318	E082	4782
chr10	24808444	24808538	E082	5387
chr10	24808550	24808611	E082	5493
chr10	24808721	24809342	E082	5664