rs4790713

Homo sapiens
G>A
SLC43A2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0133 (4000/29962,GnomAD)
A=0122 (3565/29118,TOPMED)
A=0225 (1127/5008,1000G)
A=0139 (537/3854,ALSPAC)
A=0155 (574/3708,TWINSUK)
chr17:1619583 (GRCh38.p7) (17p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
150 Enhancers around
24 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.1619583G>A
GRCh37.p13 chr 17NC_000017.10:g.1522877G>A
GRCh38.p7 chr 17 alt locus HSCHR17_1_CTG2NT_187611.1:g.49611G>A

Gene: SLC43A2, solute carrier family 43 member 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC43A2 transcript variant 1NM_001284498.1:c.N/AIntron Variant
SLC43A2 transcript variant 4NM_001321364.1:c.N/AIntron Variant
SLC43A2 transcript variant 5NM_001321365.1:c.N/AIntron Variant
SLC43A2 transcript variant 2NM_152346.2:c.N/AIntron Variant
SLC43A2 transcript variant 3NM_001284499.1:c.N/AGenic Upstream Transcript Variant
SLC43A2 transcript variant X1XM_017024177.1:c.N/AIntron Variant
SLC43A2 transcript variant X2XM_017024178.1:c.N/AIntron Variant
SLC43A2 transcript variant X3XM_017024179.1:c.N/AIntron Variant
SLC43A2 transcript variant X4XR_933972.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.984A=0.016
1000GenomesAmericanSub694G=0.590A=0.410
1000GenomesEast AsianSub1008G=0.569A=0.431
1000GenomesEuropeSub1006G=0.820A=0.180
1000GenomesGlobalStudy-wide5008G=0.775A=0.225
1000GenomesSouth AsianSub978G=0.790A=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.861A=0.139
The Genome Aggregation DatabaseAfricanSub8724G=0.967A=0.033
The Genome Aggregation DatabaseAmericanSub838G=0.550A=0.450
The Genome Aggregation DatabaseEast AsianSub1612G=0.622A=0.378
The Genome Aggregation DatabaseEuropeSub18486G=0.855A=0.145
The Genome Aggregation DatabaseGlobalStudy-wide29962G=0.866A=0.133
The Genome Aggregation DatabaseOtherSub302G=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.877A=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.845A=0.155
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs47907137.65E-05alcohol dependence21314694

eQTL of rs4790713 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 rs4790713 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 )
chr1714804241481689E067-41188
chr1715092951509557E067-13320
chr1715096201510328E067-12549
chr1715103391510410E067-12467
chr1715105021511042E067-11835
chr1715112571511648E067-11229
chr1715284481528667E0675571
chr1715287201528807E0675843
chr1715427421543684E06719865
chr1715437381543985E06720861
chr1715440591544960E06721182
chr1714772171479459E068-43418
chr1714804241481689E068-41188
chr1714958111495888E068-26989
chr1715096201510328E068-12549
chr1715103391510410E068-12467
chr1715105021511042E068-11835
chr1715157321516006E068-6871
chr1715163491516399E068-6478
chr1715165021516556E068-6321
chr1715293461529453E0686469
chr1715427421543684E06819865
chr1715437381543985E06820861
chr1715440591544960E06821182
chr1715539571554629E06831080
chr1714772171479459E069-43418
chr1714804241481689E069-41188
chr1714931451494236E069-28641
chr1714942981494410E069-28467
chr1714945251494696E069-28181
chr1715092951509557E069-13320
chr1715096201510328E069-12549
chr1715103391510410E069-12467
chr1715105021511042E069-11835
chr1715287201528807E0695843
chr1715288661529289E0695989
chr1715293461529453E0696469
chr1715427421543684E06919865
chr1715437381543985E06920861
chr1715440591544960E06921182
chr1715287201528807E0705843
chr1715288661529289E0705989
chr1715293461529453E0706469
chr1715427421543684E07019865
chr1714772171479459E071-43418
chr1714796021479731E071-43146
chr1714797901479922E071-42955
chr1714799341480142E071-42735
chr1714801841480275E071-42602
chr1714804241481689E071-41188
chr1714817331481787E071-41090
chr1714842871485026E071-37851
chr1714927981492894E071-29983
chr1714931451494236E071-28641
chr1714942981494410E071-28467
chr1714958111495888E071-26989
chr1714959171497021E071-25856
chr1715092951509557E071-13320
chr1715096201510328E071-12549
chr1715103391510410E071-12467
chr1715105021511042E071-11835
chr1715112571511648E071-11229
chr1715118171511867E071-11010
chr1715282991528349E0715422
chr1715288661529289E0715989
chr1715293461529453E0716469
chr1715427421543684E07119865
chr1715437381543985E07120861
chr1715496421549868E07126765
chr1714797901479922E072-42955
chr1714799341480142E072-42735
chr1714801841480275E072-42602
chr1714804241481689E072-41188
chr1714817331481787E072-41090
chr1714902681490803E072-32074
chr1714931451494236E072-28641
chr1714942981494410E072-28467
chr1714945251494696E072-28181
chr1714948711494983E072-27894
chr1714950571495271E072-27606
chr1714953421495444E072-27433
chr1714958111495888E072-26989
chr1714959171497021E072-25856
chr1715092951509557E072-13320
chr1715096201510328E072-12549
chr1715103391510410E072-12467
chr1715105021511042E072-11835
chr1715284481528667E0725571
chr1715287201528807E0725843
chr1715427421543684E07219865
chr1715437381543985E07220861
chr1715440591544960E07221182
chr1714801841480275E073-42602
chr1714804241481689E073-41188
chr1714817331481787E073-41090
chr1714885531489736E073-33141
chr1714900041490232E073-32645
chr1714902681490803E073-32074
chr1714909821491090E073-31787
chr1714931451494236E073-28641
chr1714942981494410E073-28467
chr1714945251494696E073-28181
chr1714958111495888E073-26989
chr1714959171497021E073-25856
chr1715089921509294E073-13583
chr1715092951509557E073-13320
chr1715096201510328E073-12549
chr1715103391510410E073-12467
chr1715105021511042E073-11835
chr1715112571511648E073-11229
chr1715239821524070E0731105
chr1715240881524620E0731211
chr1715247551524846E0731878
chr1715248581524998E0731981
chr1715265801526791E0733703
chr1715269381526988E0734061
chr1715272301527302E0734353
chr1715284481528667E0735571
chr1715287201528807E0735843
chr1715288661529289E0735989
chr1715293461529453E0736469
chr1715427421543684E07319865
chr1715437381543985E07320861
chr1715440591544960E07321182
chr1715539571554629E07331080
chr1714772171479459E074-43418
chr1714804241481689E074-41188
chr1714817331481787E074-41090
chr1714868701487153E074-35724
chr1714871571487187E074-35690
chr1714911061491514E074-31363
chr1714915991491727E074-31150
chr1715096201510328E074-12549
chr1715103391510410E074-12467
chr1715105021511042E074-11835
chr1715281311528228E0745254
chr1715282991528349E0745422
chr1715284481528667E0745571
chr1715287201528807E0745843
chr1715437381543985E07420861
chr1715440591544960E07421182
chr1715496421549868E07426765
chr1715499011550028E07427024
chr1715500481550121E07427171
chr1715501311550287E07427254
chr1715502911550383E07427414
chr1715427421543684E08119865
chr1715437381543985E08120861
chr1715427421543684E08219865
chr1715437381543985E08220861










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1715295011533770E0676624
chr1715462571549639E06723380
chr1715507011553954E06727824
chr1715295011533770E0686624
chr1715462571549639E06823380
chr1715507011553954E06827824
chr1715295011533770E0696624
chr1715462571549639E06923380
chr1715507011553954E06927824
chr1715295011533770E0706624
chr1715507011553954E07027824
chr1715295011533770E0716624
chr1715462571549639E07123380
chr1715507011553954E07127824
chr1715295011533770E0726624
chr1715462571549639E07223380
chr1715507011553954E07227824
chr1715295011533770E0736624
chr1715462571549639E07323380
chr1715507011553954E07327824
chr1715295011533770E0746624
chr1715462571549639E07423380
chr1715295011533770E0826624
chr1715507011553954E08227824