rs4902778

Homo sapiens
C>T
SLC8A3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0398 (11931/29936,GnomAD)
T=0409 (11922/29118,TOPMED)
T=0413 (2069/5008,1000G)
T=0424 (1635/3854,ALSPAC)
T=0440 (1631/3708,TWINSUK)
chr14:70113519 (GRCh38.p7) (14q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
126 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.70113519C>T
GRCh37.p13 chr 14NC_000014.8:g.70580236C>T

Gene: SLC8A3, solute carrier family 8 member A3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC8A3 transcript variant aNM_033262.4:c.N/AIntron Variant
SLC8A3 transcript variant bNM_058240.3:c.N/AIntron Variant
SLC8A3 transcript variant dNM_182932.2:c.N/AIntron Variant
SLC8A3 transcript variant cNM_183002.2:c.N/AIntron Variant
SLC8A3 transcript variant gNM_001130417.2:c.N/AGenic Upstream Transcript Variant
SLC8A3 transcript variant fNM_182936.2:c.N/AGenic Upstream Transcript Variant
SLC8A3 transcript variant hNR_104122.1:n.N/AIntron Variant
SLC8A3 transcript variant X1XM_017021606.1:c.N/AIntron Variant
SLC8A3 transcript variant X2XM_017021607.1:c.N/AIntron Variant
SLC8A3 transcript variant X3XM_017021608.1:c.N/AIntron Variant
SLC8A3 transcript variant X4XM_017021609.1:c.N/AIntron Variant
SLC8A3 transcript variant X7XM_006720240.3:c.N/AGenic Upstream Transcript Variant
SLC8A3 transcript variant X6XM_017021611.1:c.N/AGenic Upstream Transcript Variant
SLC8A3 transcript variant X5XM_017021610.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.696T=0.304
1000GenomesAmericanSub694C=0.650T=0.350
1000GenomesEast AsianSub1008C=0.524T=0.476
1000GenomesEuropeSub1006C=0.576T=0.424
1000GenomesGlobalStudy-wide5008C=0.587T=0.413
1000GenomesSouth AsianSub978C=0.470T=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.576T=0.424
The Genome Aggregation DatabaseAfricanSub8710C=0.652T=0.348
The Genome Aggregation DatabaseAmericanSub832C=0.620T=0.380
The Genome Aggregation DatabaseEast AsianSub1614C=0.495T=0.505
The Genome Aggregation DatabaseEuropeSub18478C=0.588T=0.411
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.601T=0.398
The Genome Aggregation DatabaseOtherSub302C=0.450T=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.590T=0.409
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.560T=0.440
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
rs49027780.000291alcohol dependence21314694

eQTL of rs4902778 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 rs4902778 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 )
chr147056132770561548E067-18688
chr147056159170561760E067-18476
chr147056176670561850E067-18386
chr147056445770564575E067-15661
chr147056460670564658E067-15578
chr147056472670564883E067-15353
chr147057458570574662E067-5574
chr147057476970574839E067-5397
chr147057520270575403E067-4833
chr147057559770575657E067-4579
chr147058793170588645E0677695
chr147058876770588817E0678531
chr147058891670588966E0678680
chr147056400770564246E068-15990
chr147056445770564575E068-15661
chr147056472670564883E068-15353
chr147056491270565452E068-14784
chr147056548270565537E068-14699
chr147056571470565779E068-14457
chr147056630570566380E068-13856
chr147061559070615934E06835354
chr147061605270616191E06835816
chr147061630870616385E06836072
chr147061639470616442E06836158
chr147055628170556357E069-23879
chr147055642770556488E069-23748
chr147056369070563873E069-16363
chr147056400770564246E069-15990
chr147056445770564575E069-15661
chr147056460670564658E069-15578
chr147056472670564883E069-15353
chr147056491270565452E069-14784
chr147056548270565537E069-14699
chr147056571470565779E069-14457
chr147057417270574235E069-6001
chr147057458570574662E069-5574
chr147057476970574839E069-5397
chr147057520270575403E069-4833
chr147057559770575657E069-4579
chr147055628170556357E070-23879
chr147055642770556488E070-23748
chr147056445770564575E070-15661
chr147056460670564658E070-15578
chr147056472670564883E070-15353
chr147056491270565452E070-14784
chr147056548270565537E070-14699
chr147057417270574235E070-6001
chr147057458570574662E070-5574
chr147057476970574839E070-5397
chr147056369070563873E071-16363
chr147056400770564246E071-15990
chr147056445770564575E071-15661
chr147056460670564658E071-15578
chr147056472670564883E071-15353
chr147056491270565452E071-14784
chr147057458570574662E071-5574
chr147057476970574839E071-5397
chr147057520270575403E071-4833
chr147057559770575657E071-4579
chr147058876770588817E0718531
chr147058891670588966E0718680
chr147055628170556357E072-23879
chr147055642770556488E072-23748
chr147057476970574839E072-5397
chr147057520270575403E072-4833
chr147058656970586726E0726333
chr147058674570586871E0726509
chr147058693270587021E0726696
chr147058704070587182E0726804
chr147056369070563873E073-16363
chr147056400770564246E073-15990
chr147056445770564575E073-15661
chr147056460670564658E073-15578
chr147056472670564883E073-15353
chr147056491270565452E073-14784
chr147056548270565537E073-14699
chr147056571470565779E073-14457
chr147059724170597291E07317005
chr147059736170597401E07317125
chr147055628170556357E074-23879
chr147055642770556488E074-23748
chr147056445770564575E074-15661
chr147056460670564658E074-15578
chr147056472670564883E074-15353
chr147056491270565452E074-14784
chr147053087370531210E081-49026
chr147053135070531438E081-48798
chr147053159070531641E081-48595
chr147054528770545344E081-34892
chr147054631270546352E081-33884
chr147054669270547239E081-32997
chr147054757970547674E081-32562
chr147056132770561548E081-18688
chr147056159170561760E081-18476
chr147056176670561850E081-18386
chr147056210970562195E081-18041
chr147056369070563873E081-16363
chr147056400770564246E081-15990
chr147056491270565452E081-14784
chr147056548270565537E081-14699
chr147056571470565779E081-14457
chr147056630570566380E081-13856
chr147057476970574839E081-5397
chr147057520270575403E081-4833
chr147057559770575657E081-4579
chr147058300870583096E0812772
chr147058348370583719E0813247
chr147058793170588645E0817695
chr147058876770588817E0818531
chr147058891670588966E0818680
chr147058905070589234E0818814
chr147054631270546352E082-33884
chr147056369070563873E082-16363
chr147056400770564246E082-15990
chr147056445770564575E082-15661
chr147056460670564658E082-15578
chr147056472670564883E082-15353
chr147056491270565452E082-14784
chr147056548270565537E082-14699
chr147056571470565779E082-14457
chr147058348370583719E0823247
chr147058793170588645E0827695
chr147058876770588817E0828531
chr147058891670588966E0828680
chr147059724170597291E08217005
chr147059736170597401E08217125