rs4980343

Homo sapiens
C>A / C>T
SLC28A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0419 (12542/29924,GnomAD)
T=0454 (13230/29118,TOPMED)
T=0314 (1574/5008,1000G)
T=0440 (1696/3854,ALSPAC)
T=0447 (1656/3708,TWINSUK)
chr15:84928050 (GRCh38.p7) (15q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
133 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.84928050C>A
GRCh38.p7 chr 15NC_000015.10:g.84928050C>T
GRCh37.p13 chr 15NC_000015.9:g.85471281C>A
GRCh37.p13 chr 15NC_000015.9:g.85471281C>T

Gene: SLC28A1, solute carrier family 28 member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC28A1 transcript variant 3NM_001287761.1:c.N/AIntron Variant
SLC28A1 transcript variant 4NM_001287762.1:c.N/AIntron Variant
SLC28A1 transcript variant 5NM_001321721.1:c.N/AIntron Variant
SLC28A1 transcript variant 6NM_001321722.1:c.N/AIntron Variant
SLC28A1 transcript variant 1NM_004213.4:c.N/AIntron Variant
SLC28A1 transcript variant 2NM_201651.2:c.N/AGenic Downstream Transcript Variant
SLC28A1 transcript variant X1XM_011522203.2:c.N/AIntron Variant
SLC28A1 transcript variant X2XM_011522204.2:c.N/AIntron Variant
SLC28A1 transcript variant X3XM_011522205.2:c.N/AIntron Variant
SLC28A1 transcript variant X4XM_011522206.2:c.N/AIntron Variant
SLC28A1 transcript variant X5XM_011522207.2:c.N/AIntron Variant
SLC28A1 transcript variant X6XM_011522208.2:c.N/AIntron Variant
SLC28A1 transcript variant X7XM_011522209.2:c.N/AIntron Variant
SLC28A1 transcript variant X10XM_011522210.2:c.N/AIntron Variant
SLC28A1 transcript variant X10XM_011522211.2:c.N/AIntron Variant
SLC28A1 transcript variant X13XM_011522212.1:c.N/AIntron Variant
SLC28A1 transcript variant X14XM_011522214.2:c.N/AIntron Variant
SLC28A1 transcript variant X15XM_011522215.2:c.N/AIntron Variant
SLC28A1 transcript variant X17XM_011522216.2:c.N/AIntron Variant
SLC28A1 transcript variant X16XM_011522217.1:c.N/AIntron Variant
SLC28A1 transcript variant X11XM_017022723.1:c.N/AIntron Variant
SLC28A1 transcript variant X20XM_011522218.2:c.N/AGenic Downstream Transcript Variant
SLC28A1 transcript variant X18XR_931944.2:n.N/AIntron Variant
SLC28A1 transcript variant X21XR_931945.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.517T=0.483
1000GenomesAmericanSub694C=0.690T=0.310
1000GenomesEast AsianSub1008C=0.974T=0.026
1000GenomesEuropeSub1006C=0.546T=0.454
1000GenomesGlobalStudy-wide5008C=0.686T=0.314
1000GenomesSouth AsianSub978C=0.760T=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.560T=0.440
The Genome Aggregation DatabaseAfricanSub8706C=0.546T=0.453
The Genome Aggregation DatabaseAmericanSub838C=0.730T=0.27,
The Genome Aggregation DatabaseEast AsianSub1622C=0.975T=0.025
The Genome Aggregation DatabaseEuropeSub18456C=0.557T=0.442
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.580T=0.419
The Genome Aggregation DatabaseOtherSub302C=0.500T=0.50,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.545T=0.454
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.553T=0.447
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs49803430.0005alcohol dependence20201924

eQTL of rs4980343 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 rs4980343 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 )
chr156702756667028145E06717028
chr156702819667028279E06717658
chr156700547367005645E068-4893
chr156700569767005747E068-4791
chr156700600167006078E068-4460
chr156700611867006160E068-4378
chr156700620967006278E068-4260
chr156700647267006586E068-3952
chr156700658867006674E068-3864
chr156700679067007355E068-3183
chr156700750067008050E068-2488
chr156700815167008380E068-2158
chr156700842667008763E068-1775
chr156700877067009098E068-1440
chr156700910967009330E068-1208
chr156701758667017696E0687048
chr156701770867018009E0687170
chr156701815467018209E0687616
chr156702745667027522E06816918
chr156702756667028145E06817028
chr156703637867037288E06825840
chr156704934967049405E06838811
chr156704946767049697E06838929
chr156704971867049835E06839180
chr156704992667050031E06839388
chr156705495767057010E06844419
chr156705787867058798E06847340
chr156705881067058860E06848272
chr156705888567058960E06848347
chr156700620967006278E069-4260
chr156700647267006586E069-3952
chr156700658867006674E069-3864
chr156700679067007355E069-3183
chr156701705467017138E0696516
chr156701770867018009E0697170
chr156701815467018209E0697616
chr156701830267018406E0697764
chr156701851867018590E0697980
chr156702141367022423E06910875
chr156702819667028279E06917658
chr156702884567028977E06918307
chr156699944666999640E070-10898
chr156702141367022423E07010875
chr156696710366967143E071-43395
chr156699837466999426E071-11112
chr156699944666999640E071-10898
chr156699964367000498E071-10040
chr156700750067008050E071-2488
chr156700815167008380E071-2158
chr156701705467017138E0716516
chr156701722267017577E0716684
chr156701758667017696E0717048
chr156701770867018009E0717170
chr156703778867038157E07127250
chr156703817667038236E07127638
chr156703824967038299E07127711
chr156703830967038377E07127771
chr156703845967038517E07127921
chr156704384267044354E07133304
chr156704568467045724E07135146
chr156704631867046512E07135780
chr156704664867046692E07136110
chr156704670667046765E07136168
chr156705495767057010E07144419
chr156705787867058798E07147340
chr156700460267004755E072-5783
chr156700679067007355E072-3183
chr156699944666999640E073-10898
chr156700620967006278E073-4260
chr156700647267006586E073-3952
chr156700658867006674E073-3864
chr156700679067007355E073-3183
chr156701305267013281E0732514
chr156701333067013491E0732792
chr156701358567013652E0733047
chr156701369267013884E0733154
chr156701722267017577E0736684
chr156701758667017696E0737048
chr156701770867018009E0737170
chr156701815467018209E0737616
chr156701830267018406E0737764
chr156702115267021302E07310614
chr156702141367022423E07310875
chr156702248367022603E07311945
chr156702605367026235E07315515
chr156702636367026767E07315825
chr156702745667027522E07316918
chr156702756667028145E07317028
chr156702819667028279E07317658
chr156702837267028544E07317834
chr156702958967029633E07319051
chr156702972767029956E07319189
chr156703251867032600E07321980
chr156703264167032691E07322103
chr156703273767032787E07322199
chr156703294167032985E07322403
chr156703300067033717E07322462
chr156703377967033831E07323241
chr156704358967043700E07333051
chr156704384267044354E07333304
chr156704946767049697E07338929
chr156704971867049835E07339180
chr156704992667050031E07339388
chr156705008367050309E07339545
chr156705035267050422E07339814
chr156705243167052953E07341893
chr156705495767057010E07344419
chr156700620967006278E074-4260
chr156700647267006586E074-3952
chr156700658867006674E074-3864
chr156700679067007355E074-3183
chr156700750067008050E074-2488
chr156702141367022423E07410875
chr156702756667028145E07417028
chr156702819667028279E07417658
chr156704384267044354E07433304
chr156705121167051316E07440673
chr156705495767057010E07444419
chr156705881067058860E07448272
chr156705888567058960E07448347
chr156705906267059732E07448524
chr156701705467017138E0816516
chr156701722267017577E0816684
chr156701758667017696E0817048
chr156701770867018009E0817170
chr156699944666999640E082-10898
chr156699964367000498E082-10040
chr156701705467017138E0826516
chr156701722267017577E0826684
chr156701758667017696E0827048
chr156701770867018009E0827170
chr156702141367022423E08210875
chr156702248367022603E08211945










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr156699263766998318E067-12220
chr156699263766998318E068-12220
chr156699263766998318E069-12220
chr156699263766998318E070-12220
chr156699263766998318E071-12220
chr156699263766998318E072-12220
chr156699263766998318E073-12220
chr156699263766998318E074-12220
chr156699263766998318E082-12220