rs17568303

Homo sapiens
C>G
AUTS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0126 (3782/29966,GnomAD)
G=0097 (2835/29118,TOPMED)
G=0081 (407/5008,1000G)
G=0161 (621/3854,ALSPAC)
G=0142 (528/3708,TWINSUK)
chr7:70488924 (GRCh38.p7) (7q11.22)
ND
GWASdb2
1   publication(s)
See rs on genome
154 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.70488924C>G
GRCh37.p13 chr 7NC_000007.13:g.69953910C>G
AUTS2 RefSeqGeneNG_034133.1:g.895006C>G

Gene: AUTS2, autism susceptibility candidate 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AUTS2 transcript variant 2NM_001127231.2:c.N/AIntron Variant
AUTS2 transcript variant 1NM_015570.3:c.N/AIntron Variant
AUTS2 transcript variant 3NM_001127232.2:c.N/AGenic Downstream Transcript Variant
AUTS2 transcript variant X1XM_011516010.2:c.N/AIntron Variant
AUTS2 transcript variant X2XM_011516011.2:c.N/AIntron Variant
AUTS2 transcript variant X3XM_011516012.2:c.N/AIntron Variant
AUTS2 transcript variant X4XM_011516013.2:c.N/AIntron Variant
AUTS2 transcript variant X5XM_011516014.2:c.N/AIntron Variant
AUTS2 transcript variant X6XM_011516017.2:c.N/AIntron Variant
AUTS2 transcript variant X7XM_011516018.2:c.N/AIntron Variant
AUTS2 transcript variant X9XM_017011951.1:c.N/AIntron Variant
AUTS2 transcript variant X8XM_005250257.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.985G=0.015
1000GenomesAmericanSub694C=0.880G=0.120
1000GenomesEast AsianSub1008C=0.922G=0.078
1000GenomesEuropeSub1006C=0.831G=0.169
1000GenomesGlobalStudy-wide5008C=0.919G=0.081
1000GenomesSouth AsianSub978C=0.950G=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.839G=0.161
The Genome Aggregation DatabaseAfricanSub8728C=0.967G=0.033
The Genome Aggregation DatabaseAmericanSub834C=0.910G=0.090
The Genome Aggregation DatabaseEast AsianSub1618C=0.926G=0.074
The Genome Aggregation DatabaseEuropeSub18484C=0.823G=0.176
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.873G=0.126
The Genome Aggregation DatabaseOtherSub302C=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.902G=0.097
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.858G=0.142
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs175683030.000642nicotine smoking19268276

eQTL of rs17568303 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 rs17568303 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 )
chr76998526969985596E06731359
chr76999849069998616E06744580
chr76999873669998846E06744826
chr76999893469999015E06745024
chr76992240969922459E068-31451
chr76992260769923888E068-30022
chr76992393669924055E068-29855
chr76992419069924244E068-29666
chr76993557769935695E068-18215
chr76993574769935963E068-17947
chr76993601369936086E068-17824
chr76996235369962403E0688443
chr76996243569962521E0688525
chr76996278669962854E0688876
chr76996293769963019E0689027
chr76996310369963266E0689193
chr76996331969963697E0689409
chr76996371069963935E0689800
chr76996419469964320E06810284
chr76999837269998412E06844462
chr76999849069998616E06844580
chr76999873669998846E06844826
chr76999893469999015E06845024
chr76992260769923888E069-30022
chr76993557769935695E069-18215
chr76993574769935963E069-17947
chr76995971969959979E0695809
chr76999478369994917E06940873
chr76999837269998412E06944462
chr76999849069998616E06944580
chr76999873669998846E06944826
chr76999893469999015E06945024
chr76990404569904114E070-49796
chr76990411869904261E070-49649
chr76990458669904742E070-49168
chr76990475069905053E070-48857
chr76992260769923888E070-30022
chr76992393669924055E070-29855
chr76995311169953278E070-632
chr76996278669962854E0708876
chr76996293769963019E0709027
chr76996310369963266E0709193
chr76996331969963697E0709409
chr76996371069963935E0709800
chr76996419469964320E07010284
chr76996435569964470E07010445
chr76997076169970811E07016851
chr76997094369971086E07017033
chr76997123869971309E07017328
chr76997282969973279E07018919
chr76997338669973463E07019476
chr76997755969978525E07023649
chr76993557769935695E071-18215
chr76993574769935963E071-17947
chr76993601369936086E071-17824
chr76995704869957107E0713138
chr76999412369994247E07140213
chr76999442269994476E07140512
chr76999452969994755E07140619
chr76999478369994917E07140873
chr76999849069998616E07144580
chr76999873669998846E07144826
chr76999893469999015E07145024
chr76993557769935695E072-18215
chr76993574769935963E072-17947
chr76993601369936086E072-17824
chr76993621869936270E072-17640
chr76999837269998412E07244462
chr76999849069998616E07244580
chr76999873669998846E07244826
chr76999893469999015E07245024
chr76996371069963935E0739800
chr76992260769923888E074-30022
chr76992393669924055E074-29855
chr76992419069924244E074-29666
chr76996278669962854E0748876
chr76996293769963019E0749027
chr76996310369963266E0749193
chr76996331969963697E0749409
chr76996371069963935E0749800
chr76999391369994042E07440003
chr76999412369994247E07440213
chr76999816169998211E07444251
chr76999837269998412E07444462
chr76999849069998616E07444580
chr76999873669998846E07444826
chr76999893469999015E07445024
chr76992240969922459E081-31451
chr76992260769923888E081-30022
chr76992393669924055E081-29855
chr76993767269937835E081-16075
chr76993786569938519E081-15391
chr76993859169938641E081-15269
chr76993881369938863E081-15047
chr76993899569939045E081-14865
chr76993906969939113E081-14797
chr76993917169939395E081-14515
chr76993953969939648E081-14262
chr76993978269939988E081-13922
chr76994002969940143E081-13767
chr76994016369940408E081-13502
chr76996088869960964E0816978
chr76996235369962403E0818443
chr76996243569962521E0818525
chr76996278669962854E0818876
chr76996293769963019E0819027
chr76996310369963266E0819193
chr76996331969963697E0819409
chr76996371069963935E0819800
chr76996419469964320E08110284
chr76996435569964470E08110445
chr76996919369969335E08115283
chr76996938369969533E08115473
chr76997056969970656E08116659
chr76997076169970811E08116851
chr76997094369971086E08117033
chr76997123869971309E08117328
chr76997138069971926E08117470
chr76997708769977538E08123177
chr76997755969978525E08123649
chr76999209069992238E08138180
chr76999391369994042E08140003
chr76999412369994247E08140213
chr76999442269994476E08140512
chr76999452969994755E08140619
chr76999478369994917E08140873
chr76999502469995613E08141114
chr76999573969995849E08141829
chr76999893469999015E08145024
chr76993693469937017E082-16893
chr76993767269937835E082-16075
chr76994002969940143E082-13767
chr76995209969952193E082-1717
chr76996235369962403E0828443
chr76996243569962521E0828525
chr76996278669962854E0828876
chr76996293769963019E0829027
chr76996310369963266E0829193
chr76996331969963697E0829409
chr76996371069963935E0829800
chr76996419469964320E08210284
chr76996435569964470E08210445
chr76996919369969335E08215283
chr76996938369969533E08215473
chr76997076169970811E08216851
chr76997094369971086E08217033
chr76997123869971309E08217328
chr76997138069971926E08217470
chr76997755969978525E08223649
chr76999442269994476E08240512
chr76999452969994755E08240619
chr76999478369994917E08240873
chr76999502469995613E08241114
chr76999573969995849E08241829