rs1035717

Homo sapiens
A>G
SLC8A3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0456 (13635/29888,GnomAD)
G=0433 (12631/29118,TOPMED)
A==0411 (2057/5008,1000G)
G=0408 (1573/3854,ALSPAC)
G=0412 (1526/3708,TWINSUK)
chr14:70111982 (GRCh38.p7) (14q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.70111982A>G
GRCh37.p13 chr 14NC_000014.8:g.70578699A>G

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
1000GenomesAfricanSub1322A=0.598G=0.402
1000GenomesAmericanSub694A=0.510G=0.490
1000GenomesEast AsianSub1008A=0.062G=0.938
1000GenomesEuropeSub1006A=0.583G=0.417
1000GenomesGlobalStudy-wide5008A=0.411G=0.589
1000GenomesSouth AsianSub978A=0.270G=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.592G=0.408
The Genome Aggregation DatabaseAfricanSub8682A=0.576G=0.424
The Genome Aggregation DatabaseAmericanSub832A=0.540G=0.460
The Genome Aggregation DatabaseEast AsianSub1620A=0.038G=0.962
The Genome Aggregation DatabaseEuropeSub18452A=0.574G=0.425
The Genome Aggregation DatabaseGlobalStudy-wide29888A=0.543G=0.456
The Genome Aggregation DatabaseOtherSub302A=0.470G=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.566G=0.433
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.588G=0.412
PMID Title Author Journal
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs10357176.36E-06alcohol dependence23691058

eQTL of rs1035717 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 rs1035717 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 )
chr147056132770561548E067-17151
chr147056159170561760E067-16939
chr147056176670561850E067-16849
chr147056445770564575E067-14124
chr147056460670564658E067-14041
chr147056472670564883E067-13816
chr147057458570574662E067-4037
chr147057476970574839E067-3860
chr147057520270575403E067-3296
chr147057559770575657E067-3042
chr147058793170588645E0679232
chr147058876770588817E06710068
chr147058891670588966E06710217
chr147056400770564246E068-14453
chr147056445770564575E068-14124
chr147056472670564883E068-13816
chr147056491270565452E068-13247
chr147056548270565537E068-13162
chr147056571470565779E068-12920
chr147056630570566380E068-12319
chr147061559070615934E06836891
chr147061605270616191E06837353
chr147061630870616385E06837609
chr147061639470616442E06837695
chr147055628170556357E069-22342
chr147055642770556488E069-22211
chr147056369070563873E069-14826
chr147056400770564246E069-14453
chr147056445770564575E069-14124
chr147056460670564658E069-14041
chr147056472670564883E069-13816
chr147056491270565452E069-13247
chr147056548270565537E069-13162
chr147056571470565779E069-12920
chr147057417270574235E069-4464
chr147057458570574662E069-4037
chr147057476970574839E069-3860
chr147057520270575403E069-3296
chr147057559770575657E069-3042
chr147055628170556357E070-22342
chr147055642770556488E070-22211
chr147056445770564575E070-14124
chr147056460670564658E070-14041
chr147056472670564883E070-13816
chr147056491270565452E070-13247
chr147056548270565537E070-13162
chr147057417270574235E070-4464
chr147057458570574662E070-4037
chr147057476970574839E070-3860
chr147056369070563873E071-14826
chr147056400770564246E071-14453
chr147056445770564575E071-14124
chr147056460670564658E071-14041
chr147056472670564883E071-13816
chr147056491270565452E071-13247
chr147057458570574662E071-4037
chr147057476970574839E071-3860
chr147057520270575403E071-3296
chr147057559770575657E071-3042
chr147058876770588817E07110068
chr147058891670588966E07110217
chr147055628170556357E072-22342
chr147055642770556488E072-22211
chr147057476970574839E072-3860
chr147057520270575403E072-3296
chr147058656970586726E0727870
chr147058674570586871E0728046
chr147058693270587021E0728233
chr147058704070587182E0728341
chr147056369070563873E073-14826
chr147056400770564246E073-14453
chr147056445770564575E073-14124
chr147056460670564658E073-14041
chr147056472670564883E073-13816
chr147056491270565452E073-13247
chr147056548270565537E073-13162
chr147056571470565779E073-12920
chr147059724170597291E07318542
chr147059736170597401E07318662
chr147055628170556357E074-22342
chr147055642770556488E074-22211
chr147056445770564575E074-14124
chr147056460670564658E074-14041
chr147056472670564883E074-13816
chr147056491270565452E074-13247
chr147053087370531210E081-47489
chr147053135070531438E081-47261
chr147053159070531641E081-47058
chr147054528770545344E081-33355
chr147054631270546352E081-32347
chr147054669270547239E081-31460
chr147054757970547674E081-31025
chr147056132770561548E081-17151
chr147056159170561760E081-16939
chr147056176670561850E081-16849
chr147056210970562195E081-16504
chr147056369070563873E081-14826
chr147056400770564246E081-14453
chr147056491270565452E081-13247
chr147056548270565537E081-13162
chr147056571470565779E081-12920
chr147056630570566380E081-12319
chr147057476970574839E081-3860
chr147057520270575403E081-3296
chr147057559770575657E081-3042
chr147058300870583096E0814309
chr147058348370583719E0814784
chr147058793170588645E0819232
chr147058876770588817E08110068
chr147058891670588966E08110217
chr147058905070589234E08110351
chr147054631270546352E082-32347
chr147056369070563873E082-14826
chr147056400770564246E082-14453
chr147056445770564575E082-14124
chr147056460670564658E082-14041
chr147056472670564883E082-13816
chr147056491270565452E082-13247
chr147056548270565537E082-13162
chr147056571470565779E082-12920
chr147058348370583719E0824784
chr147058793170588645E0829232
chr147058876770588817E08210068
chr147058891670588966E08210217
chr147059724170597291E08218542
chr147059736170597401E08218662