rs2107942

Homo sapiens
T>C
AUTS2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0313 (9330/29804,GnomAD)
C=0358 (10448/29118,TOPMED)
C=0474 (2375/5008,1000G)
C=0247 (952/3854,ALSPAC)
C=0240 (890/3708,TWINSUK)
chr7:70666837 (GRCh38.p7) (7q11.22)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.70666837T>C
GRCh37.p13 chr 7NC_000007.13:g.70131823T>C
AUTS2 RefSeqGeneNG_034133.1:g.1072919T>C

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=0.545C=0.455
1000GenomesAmericanSub694T=0.460C=0.540
1000GenomesEast AsianSub1008T=0.343C=0.657
1000GenomesEuropeSub1006T=0.780C=0.220
1000GenomesGlobalStudy-wide5008T=0.526C=0.474
1000GenomesSouth AsianSub978T=0.470C=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.753C=0.247
The Genome Aggregation DatabaseAfricanSub8664T=0.563C=0.437
The Genome Aggregation DatabaseAmericanSub838T=0.460C=0.540
The Genome Aggregation DatabaseEast AsianSub1610T=0.324C=0.676
The Genome Aggregation DatabaseEuropeSub18390T=0.788C=0.211
The Genome Aggregation DatabaseGlobalStudy-wide29804T=0.687C=0.313
The Genome Aggregation DatabaseOtherSub302T=0.650C=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.641C=0.358
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.760C=0.240
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
rs21079420.000617alcohol dependence21314694

eQTL of rs2107942 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 rs2107942 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 )
chr77008549870085611E067-46212
chr77008572870086016E067-45807
chr77009219670092342E067-39481
chr77009251570092765E067-39058
chr77017471170175776E06742888
chr77008333470083414E068-48409
chr77008361370083783E068-48040
chr77008379170083907E068-47916
chr77008401470084504E068-47319
chr77008461770084682E068-47141
chr77008471870085061E068-46762
chr77008516370085252E068-46571
chr77008531070085373E068-46450
chr77008549870085611E068-46212
chr77008572870086016E068-45807
chr77008610670086300E068-45523
chr77009251570092765E068-39058
chr77009280570092869E068-38954
chr77009288070092952E068-38871
chr77010879070108888E068-22935
chr77010897470109100E068-22723
chr77011154570111852E068-19971
chr77011185370111923E068-19900
chr77011194470112074E068-19749
chr77011215670112301E068-19522
chr77011235470112696E068-19127
chr77011277470113574E068-18249
chr77012004770120282E068-11541
chr77016390370164098E06832080
chr77016420670164542E06832383
chr77016485570166271E06833032
chr77016650970166831E06834686
chr77016710170167517E06835278
chr77016864870169120E06836825
chr77016914770169245E06837324
chr77016939870169557E06837575
chr77016965270170405E06837829
chr77017062670170724E06838803
chr77017088870170941E06839065
chr77017100970171641E06839186
chr77017177570171831E06839952
chr77017187070171949E06840047
chr77017232170172371E06840498
chr77017265470172731E06840831
chr77017283570173123E06841012
chr77017471170175776E06842888
chr77017581170176087E06843988
chr77008333470083414E069-48409
chr77008361370083783E069-48040
chr77008379170083907E069-47916
chr77008401470084504E069-47319
chr77008461770084682E069-47141
chr77008471870085061E069-46762
chr77008516370085252E069-46571
chr77008531070085373E069-46450
chr77008549870085611E069-46212
chr77009251570092765E069-39058
chr77011154570111852E069-19971
chr77011185370111923E069-19900
chr77011194470112074E069-19749
chr77016420670164542E06932383
chr77016485570166271E06933032
chr77017773870177835E06945915
chr77017783770177983E06946014
chr77008311370083218E070-48605
chr77008333470083414E070-48409
chr77008361370083783E070-48040
chr77008379170083907E070-47916
chr77008401470084504E070-47319
chr77008461770084682E070-47141
chr77008471870085061E070-46762
chr77008516370085252E070-46571
chr77008531070085373E070-46450
chr77008549870085611E070-46212
chr77008572870086016E070-45807
chr77008610670086300E070-45523
chr77008967870089926E070-41897
chr77009010470090154E070-41669
chr77009251570092765E070-39058
chr77009280570092869E070-38954
chr77009288070092952E070-38871
chr77009401970094069E070-37754
chr77009497870095101E070-36722
chr77009520970095259E070-36564
chr77009677270097002E070-34821
chr77009706670097363E070-34460
chr77010262870102688E070-29135
chr77010280770102852E070-28971
chr77010285570102973E070-28850
chr77010301470103109E070-28714
chr77010324170104011E070-27812
chr77010964870109698E070-22125
chr77010971670109842E070-21981
chr77010995170110001E070-21822
chr77011010070111468E070-20355
chr77011154570111852E070-19971
chr77011185370111923E070-19900
chr77011194470112074E070-19749
chr77016315370163677E07031330
chr77016420670164542E07032383
chr77016485570166271E07033032
chr77016650970166831E07034686
chr77016710170167517E07035278
chr77016864870169120E07036825
chr77016914770169245E07037324
chr77016939870169557E07037575
chr77016965270170405E07037829
chr77017062670170724E07038803
chr77017088870170941E07039065
chr77008361370083783E071-48040
chr77008379170083907E071-47916
chr77008401470084504E071-47319
chr77008461770084682E071-47141
chr77008471870085061E071-46762
chr77008516370085252E071-46571
chr77008531070085373E071-46450
chr77008549870085611E071-46212
chr77008572870086016E071-45807
chr77009251570092765E071-39058
chr77010879070108888E071-22935
chr77010897470109100E071-22723
chr77011154570111852E071-19971
chr77017471170175776E07142888
chr77008471870085061E072-46762
chr77008516370085252E072-46571
chr77008531070085373E072-46450
chr77008549870085611E072-46212
chr77008572870086016E072-45807
chr77008610670086300E072-45523
chr77009251570092765E072-39058
chr77008471870085061E073-46762
chr77008516370085252E073-46571
chr77008531070085373E073-46450
chr77016420670164542E07332383
chr77008471870085061E074-46762
chr77008516370085252E074-46571
chr77008531070085373E074-46450
chr77008549870085611E074-46212
chr77009251570092765E074-39058
chr77009280570092869E074-38954
chr77009288070092952E074-38871
chr77010024770100297E074-31526
chr77016710170167517E07435278
chr77016864870169120E07436825
chr77016914770169245E07437324
chr77017471170175776E07442888
chr77017634870176528E07444525
chr77008311370083218E081-48605
chr77008333470083414E081-48409
chr77008361370083783E081-48040
chr77008379170083907E081-47916
chr77008401470084504E081-47319
chr77008461770084682E081-47141
chr77008471870085061E081-46762
chr77008516370085252E081-46571
chr77008531070085373E081-46450
chr77008549870085611E081-46212
chr77008572870086016E081-45807
chr77009251570092765E081-39058
chr77009497870095101E081-36722
chr77009520970095259E081-36564
chr77009527370096563E081-35260
chr77009677270097002E081-34821
chr77009706670097363E081-34460
chr77009745870097549E081-34274
chr77009905970099132E081-32691
chr77010964870109698E081-22125
chr77010971670109842E081-21981
chr77010995170110001E081-21822
chr77011010070111468E081-20355
chr77011154570111852E081-19971
chr77011185370111923E081-19900
chr77011194470112074E081-19749
chr77011215670112301E081-19522
chr77011235470112696E081-19127
chr77011277470113574E081-18249
chr77013292570133023E0811102
chr77014548870145583E08113665
chr77014579670146067E08113973
chr77014609770146430E08114274
chr77014657970147228E08114756
chr77014729170147355E08115468
chr77014742170147545E08115598
chr77014759270147758E08115769
chr77014777870147860E08115955
chr77014786970148033E08116046
chr77015780470157882E08125981
chr77015795270158104E08126129
chr77015812770158167E08126304
chr77016390370164098E08132080
chr77016420670164542E08132383
chr77016485570166271E08133032
chr77016650970166831E08134686
chr77016710170167517E08135278
chr77016864870169120E08136825
chr77016914770169245E08137324
chr77016939870169557E08137575
chr77016965270170405E08137829
chr77017062670170724E08138803
chr77017088870170941E08139065
chr77017100970171641E08139186
chr77017177570171831E08139952
chr77017187070171949E08140047
chr77017232170172371E08140498
chr77017265470172731E08140831
chr77017283570173123E08141012
chr77017471170175776E08142888
chr77017581170176087E08143988
chr77017617170176284E08144348
chr77017634870176528E08144525
chr77017661070176827E08144787
chr77017773870177835E08145915
chr77017783770177983E08146014
chr77017801370178239E08146190
chr77008311370083218E082-48605
chr77008333470083414E082-48409
chr77008361370083783E082-48040
chr77008379170083907E082-47916
chr77008401470084504E082-47319
chr77008549870085611E082-46212
chr77008572870086016E082-45807
chr77008967870089926E082-41897
chr77009497870095101E082-36722
chr77009520970095259E082-36564
chr77009527370096563E082-35260
chr77009677270097002E082-34821
chr77009706670097363E082-34460
chr77011010070111468E082-20355
chr77011154570111852E082-19971
chr77011185370111923E082-19900
chr77011194470112074E082-19749
chr77011215670112301E082-19522
chr77011235470112696E082-19127
chr77014548870145583E08213665
chr77014579670146067E08213973
chr77014609770146430E08214274
chr77014657970147228E08214756
chr77014729170147355E08215468
chr77014742170147545E08215598
chr77014759270147758E08215769
chr77014777870147860E08215955
chr77014786970148033E08216046
chr77014815470148276E08216331
chr77014837470148428E08216551
chr77015795270158104E08226129
chr77015812770158167E08226304
chr77016939870169557E08237575
chr77016965270170405E08237829
chr77017062670170724E08238803
chr77017088870170941E08239065
chr77017100970171641E08239186
chr77017471170175776E08242888
chr77017581170176087E08243988
chr77017773870177835E08245915
chr77017783770177983E08246014
chr77017801370178239E08246190










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr77015820970162020E06726386
chr77015820970162020E06826386
chr77016214770162237E06830324
chr77016243370162510E06830610
chr77015820970162020E06926386
chr77016214770162237E07030324
chr77016243370162510E07030610
chr77015820970162020E07126386
chr77015820970162020E07226386
chr77015820970162020E07326386
chr77015820970162020E07426386
chr77015820970162020E08126386
chr77016214770162237E08130324
chr77016243370162510E08130610
chr77015820970162020E08226386
chr77016214770162237E08230324
chr77016243370162510E08230610