rs6943555

Homo sapiens
T>A
AUTS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0332 (9928/29904,GnomAD)
A=0374 (10903/29118,TOPMED)
A=0375 (1877/5008,1000G)
A=0235 (904/3854,ALSPAC)
A=0244 (905/3708,TWINSUK)
chr7:70341037 (GRCh38.p7) (7q11.22)
AD
GWASdb2
10   publication(s)
See rs on genome
181 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.70341037T>A
GRCh37.p13 chr 7NC_000007.13:g.69806023T>A
AUTS2 RefSeqGeneNG_034133.1:g.747119T>A

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
1000GenomesAfricanSub1322T=0.407A=0.593
1000GenomesAmericanSub694T=0.720A=0.280
1000GenomesEast AsianSub1008T=0.656A=0.344
1000GenomesEuropeSub1006T=0.778A=0.222
1000GenomesGlobalStudy-wide5008T=0.625A=0.375
1000GenomesSouth AsianSub978T=0.660A=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.765A=0.235
The Genome Aggregation DatabaseAfricanSub8702T=0.461A=0.539
The Genome Aggregation DatabaseAmericanSub836T=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1612T=0.635A=0.365
The Genome Aggregation DatabaseEuropeSub18452T=0.766A=0.233
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.668A=0.332
The Genome Aggregation DatabaseOtherSub302T=0.600A=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.625A=0.374
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.756A=0.244
PMID Title Author Journal
25045619The Genetics, Neurogenetics and Pharmacogenetics of Addiction.Demers CHCurr Behav Neurosci Rep
26763194Association between AUTS2 haplotypes and alcohol dependence in a Japanese population.Narita SActa Neuropsychiatr
22640768The genetic basis of addictive disorders.Ducci FPsychiatr Clin North Am
25347278Association study identifying a new susceptibility gene (AUTS2) for schizophrenia.Zhang BInt J Mol Sci
22995765Genetic analysis of AUTS2 as a susceptibility gene of heroin dependence.Chen YHDrug Alcohol Depend
22806211The genetics of addiction-a translational perspective.Agrawal ATransl Psychiatry
22384374Glypican Gene GPC5 Participates in the Behavioral Response to Ethanol: Evidence from Humans, Mice, and Fruit Flies.Joslyn GG3 (Bethesda)
21471458Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption.Schumann GProc Natl Acad Sci U S A
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet
25398668The evidence for the contribution of the autism susceptibility candidate 2 (AUTS2) gene in heroin dependence susceptibility.Dang WJ Mol Neurosci

P-Value

SNP ID p-value Traits Study
rs69435554E-08alcohol consumption21471458

eQTL of rs6943555 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 rs6943555 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 )
chr76975762269758218E067-47805
chr76978555369785640E067-20383
chr76978567469785724E067-20299
chr76978582669785930E067-20093
chr76978597169786739E067-19284
chr76978770269787752E067-18271
chr76978782869788242E067-17781
chr76978838669788498E067-17525
chr76979064769791071E067-14952
chr76982564369825992E06719620
chr76984761669847680E06741593
chr76984801469848157E06741991
chr76984817069848400E06742147
chr76984844969850015E06742426
chr76978282869782930E068-23093
chr76978330869783378E068-22645
chr76978356069783895E068-22128
chr76978555369785640E068-20383
chr76978567469785724E068-20299
chr76978582669785930E068-20093
chr76982564369825992E06819620
chr76982645469826540E06820431
chr76984019169840256E06834168
chr76984026969840347E06834246
chr76984039369840443E06834370
chr76984044769840544E06834424
chr76984067369840755E06834650
chr76984083469840878E06834811
chr76984089869840948E06834875
chr76984106269841144E06835039
chr76984155069841687E06835527
chr76984761669847680E06841593
chr76984801469848157E06841991
chr76984817069848400E06842147
chr76984844969850015E06842426
chr76978555369785640E069-20383
chr76978567469785724E069-20299
chr76978582669785930E069-20093
chr76978770269787752E069-18271
chr76982526669825389E06919243
chr76982564369825992E06919620
chr76984817069848400E06942147
chr76984844969850015E06942426
chr76980274169802831E070-3192
chr76980363269803682E070-2341
chr76980597069806020E070-3
chr76980611969806186E07096
chr76984148469841531E07035461
chr76984155069841687E07035527
chr76984844969850015E07042426
chr76978555369785640E071-20383
chr76978567469785724E071-20299
chr76978582669785930E071-20093
chr76978782869788242E071-17781
chr76981837069818466E07112347
chr76981846769818604E07112444
chr76982526669825389E07119243
chr76982564369825992E07119620
chr76982645469826540E07120431
chr76984761669847680E07141593
chr76984801469848157E07141991
chr76984817069848400E07142147
chr76984844969850015E07142426
chr76978517069785250E072-20773
chr76978555369785640E072-20383
chr76978567469785724E072-20299
chr76978582669785930E072-20093
chr76978597169786739E072-19284
chr76978555369785640E073-20383
chr76978567469785724E073-20299
chr76978582669785930E073-20093
chr76984801469848157E07341991
chr76984817069848400E07342147
chr76984844969850015E07342426
chr76975721769757280E074-48743
chr76975734569757395E074-48628
chr76975762269758218E074-47805
chr76978356069783895E074-22128
chr76978517069785250E074-20773
chr76978555369785640E074-20383
chr76978567469785724E074-20299
chr76978582669785930E074-20093
chr76978597169786739E074-19284
chr76981846769818604E07412444
chr76981862069819251E07412597
chr76981928169819399E07413258
chr76982526669825389E07419243
chr76982564369825992E07419620
chr76984753169847581E07441508
chr76984761669847680E07441593
chr76984801469848157E07441991
chr76984817069848400E07442147
chr76976388869763962E081-42061
chr76976414469764748E081-41275
chr76976823869768290E081-37733
chr76976837469769133E081-36890
chr76978770269787752E081-18271
chr76978782869788242E081-17781
chr76978838669788498E081-17525
chr76978855169788675E081-17348
chr76978888469788938E081-17085
chr76978895069789005E081-17018
chr76979064769791071E081-14952
chr76979128369791343E081-14680
chr76979137169791567E081-14456
chr76979957069799676E081-6347
chr76979970469800301E081-5722
chr76980543969805500E081-523
chr76980656269806745E081539
chr76980700069807122E081977
chr76981955669819678E08113533
chr76981973369819829E08113710
chr76981984969820018E08113826
chr76982014769820436E08114124
chr76982053769821617E08114514
chr76982564369825992E08119620
chr76983754469837597E08131521
chr76983776669838233E08131743
chr76983833569838408E08132312
chr76984699769847037E08140974
chr76984753169847581E08141508
chr76984761669847680E08141593
chr76984801469848157E08141991
chr76984844969850015E08142426
chr76985007169850270E08144048
chr76985049769850570E08144474
chr76985184869851917E08145825
chr76985209069852310E08146067
chr76985249069852618E08146467
chr76985276369852994E08146740
chr76985325269853297E08147229
chr76985341169853455E08147388
chr76985433369855029E08148310
chr76985523169855283E08149208
chr76985539469855502E08149371
chr76985563169855691E08149608
chr76985577569855825E08149752
chr76976388869763962E082-42061
chr76976414469764748E082-41275
chr76978770269787752E082-18271
chr76978782869788242E082-17781
chr76978855169788675E082-17348
chr76979064769791071E082-14952
chr76980180669801856E082-4167
chr76980274169802831E082-3192
chr76980297869803428E082-2595
chr76980438169804431E082-1592
chr76980462469804764E082-1259
chr76980485869804912E082-1111
chr76980543969805500E082-523
chr76980560469805679E082-344
chr76980571269805848E082-175
chr76980597069806020E082-3
chr76980611969806186E08296
chr76980625769806297E082234
chr76980656269806745E082539
chr76980700069807122E082977
chr76980856169808956E0822538
chr76980943169810081E0823408
chr76981973369819829E08213710
chr76981984969820018E08213826
chr76982014769820436E08214124
chr76982053769821617E08214514
chr76982183969822269E08215816
chr76984148469841531E08235461
chr76984155069841687E08235527
chr76984699769847037E08240974
chr76984753169847581E08241508
chr76984761669847680E08241593
chr76984801469848157E08241991
chr76984817069848400E08242147
chr76984844969850015E08242426
chr76985007169850270E08244048
chr76985049769850570E08244474
chr76985209069852310E08246067
chr76985249069852618E08246467
chr76985276369852994E08246740
chr76985523169855283E08249208
chr76985539469855502E08249371
chr76985563169855691E08249608
chr76985577569855825E08249752